Genetics and Genomics Commons^™

Adapts: Automated Deconvolution Augmentation Of Profiles For Tissue Specific Cells., Samuel A Danziger, David L Gibbs, Ilya Shmulevich, Mark Mcconnell, Matthew W B Trotter, Frank Schmitz, David J Reiss, Alexander V Ratushny

Articles, Abstracts, and Reports

Immune cell infiltration of tumors and the tumor microenvironment can be an important component for determining patient outcomes. For example, immune and stromal cell presence inferred by deconvolving patient gene expression data may help identify high risk patients or suggest a course of treatment. One particularly powerful family of deconvolution techniques uses signature matrices of genes that uniquely identify each cell type as determined from single cell type purified gene expression data. Many methods from this family have been recently published, often including new signature matrices appropriate for a single purpose, such as investigating a specific type of tumor. The …

Effects Of Suv39h1 And Suv420h1/H2 On Programmed Genome Rearrangement In Petromyzon Marinus, Claire A. Scott

Oswald Research and Creativity Competition

The sea lamprey (Petromyzon marinus), diverged from the vertebrate lineage roughly 550 million years ago, prior to the evolution of several major morphological features such as jaws and paired fins/appendages. Lamprey therefore provides a comparative perspective that can be used to study the evolution of differences in genome regulation, including epigenetics and programmed genome rearrangement (PGR). Programmed genome rearrangement is a unique regulatory mechanism wherein specific genes are effectively turned off by completely eliminating their sequences from the genome. Through PGR, lamprey delete approximately 20% of their genome from all somatic cells, with these specific sequences being only …

Evaluation Of Genotype Quality Parameters For Sowpro90, A New Genotyping Array For Swine, Hiruni R. Wijesena, Gary A. Rohrer, Dan J. Nonneman, Brittney N. Keel, Jessica L. Petersen, Stephen D. Kachman, Daniel C. Ciobanu

Department of Animal Science: Faculty Publications

Understanding early predictors of sow fertility has the potential to improve genomic predictions. A custom SNP array (SowPro90 produced by Affymetrix) was developed to include genetic variants overlapping quantitative trait loci for age at puberty, one of the earliest indicators of sow fertility, as well as variants related to innate and adaptive immunity. The polymorphisms included in the custom genotyping array were identified using multiple genomic approaches including deep genomic and transcriptomic sequencing and genome-wide associations. Animals from research and commercial populations (n = 2,586) were genotyped for 103,476 SNPs included in SowPro90. To assess the quality …

Coding Sequences Of Sarcoplasmic Reticulum Calcium Atpase Regulatory Peptides And Expression Of Calcium Regulatory Genes In Recurrent Exertional Rhabdomyolysis, Stephanie J. Valberg, Kaitlin Soave, Zoe J. Williams, Sudeep Perumbakkam, Melissa Schott, Carrie J. Finno, Jessica L. Petersen, Clara Fenger, Joseph M. Autry, David D. Thomas

Department of Animal Science: Faculty Publications

Background: Sarcolipin (SLN), myoregulin (MRLN), and dwarf open reading frame (DWORF) are transmembrane regulators of the sarcoplasmic reticulum calcium transporting ATPase (SERCA) that we hypothesized played a role in recurrent exertional rhabdomyolysis (RER).

Objectives: Compare coding sequences of SLN, MRLN, DWORF across species and between RER and control horses. Compare expression of muscle Ca²⁺ regulatory genes between RER and control horses.

Animals: Twenty Thoroughbreds (TB), 5 Standardbreds (STD), 6 Quarter Horses (QH) with RER and 39 breed-matched controls.

Methods: Sanger sequencing of SERCA regulatory genes with comparison of amino acid (AA) …

Yes-Associated Protein 1 Is Required For Proliferation And Function Of Bovine Granulosa Cells In Vitro, Michele R. Plewes, Xiaoying Hou, Pan Zhang, Aixin Liang, Guohua Hua, Jennifer R. Wood, Andrea S. Cupp, Xiangmin Lv, Cheng Wang, John S. Davis

Department of Animal Science: Faculty Publications

Yes-associated protein 1 (YAP1) is a major component of the Hippo signaling pathway. Although the exact extracellular signals that control the Hippo pathway are currently unknown, increasing evidence supports a critical role for the Hippo pathway in embryonic development, regulation of organ size, and carcinogenesis. Granulosa cells (GCs) within the ovarian follicle proliferate and produce steroids and growth factors, which facilitate the growth of follicle and maturation of the oocyte.We hypothesize that YAP1 plays a role in proliferation and estrogen secretion of GCs. In the current study, we examined the expression of the Hippo signaling pathway in bovine ovaries and …

Postnatal Β2 Adrenergic Treatment Improves Insulin Sensitivity In Lambs With Iugr But Not Persistent Defects In Pancreatic Islets Or Skeletal Muscle, Dustin T. Yates, Leticia E. Camacho, Amy C. Kelly, Leah V. Steyn, Melissa A. Davis, Andrew T. Antolic, Miranda J. Anderson, Ravi Goyal, Ronald E. Allen, Klearchos K. Papas, William W. Hay Jr, Sean W. Limesand

Department of Animal Science: Faculty Publications

Placental insufficiency causes intrauterine growth restriction (IUGR) and disturbances in glucose homeostasis with associated β adrenergic receptor (ADRβ) desensitization. Our objectives were to measure insulin-sensitive glucose metabolism in neonatal lambs with IUGR and to determine whether daily treatment with ADRβ2 agonist and ADRβ1/β3 antagonists for 1 month normalizes their glucose metabolism. Growth, glucose-stimulated insulin secretion (GSIS) and glucose utilization rates (GURs) were measured in control lambs, IUGR lambs and IUGR lambs treated with adrenergic receptor modifiers: clenbuterol atenolol and SR59230A (IUGR-AR). In IUGR lambs, islet insulin content and GSIS were less than …

Ractopamine Hcl Improved Cardiac Hypertrophy But Not Poor Growth, Metabolic Inefficiency, Or Greater White Blood Cells Associated With Heat Stress In Concentrate-Fed Lambs, Rebecca M. Swanson, Kristin A. Beede, Micayla D. Freeman, Morgan L. Eggleston, Ty B. Schmidt, Jessica L. Petersen, Dustin T. Yates

Department of Animal Science: Faculty Publications

Heat stress decreases livestock performance and well-being (Hahn, 1999; Nienaber and Hahn, 2007), causes metabolic dysfunction that decreases growth efficiency (O’Brien et al., 2010), and alters cardiovascular function (Crandall et al., 2008). Each year, heat stress costs the livestock industry up to $2.5 billion (St-Pierre et al., 2003). Ractopamine HCl acts as a nutrient repartitioning agent (Beermann, 2002); classified as a β adrenergic agonist (βAA), it shares pharmacological properties with adrenaline (Beermann, 2002). βAA increase muscle mass and decreases fat deposition through unknown mechanisms (Beermann, 2002). In feedlot cattle, they increase growth efficiency and improve carcass yield and merit (Scramlin …

Body Composition Estimated By Bioelectrical Impedance Analyses Is Diminished By Prenatal Stress In Neonatal Lambs And By Heat Stress In Feedlot Wethers, Rachel L. Gibbs, Caitlin N. Cadaret, Rebecca M. Swanson, Kristin A. Beede, Robert J. Posont, Ty B. Schmidt, Jessica Lynn Petersen, Dustin T. Yates

Department of Animal Science: Faculty Publications

Body composition correlates to carcass value in livestock, which makes the ability to accurately estimate body composition in the live animal beneficial (Berg and Marchello, 1994). Bioelectrical impedance analysis (BIA) is a clinical tool used to assess body composition in humans (Lukaski et al., 1985), but its use in livestock has been minimal. Lean and fat content contribute to profitability for livestock producers, and poor body composition can be caused by stress that occurs either during in utero development (De Blasio et al., 2007) or during postnatal growth (Boyd et al., 2015). Maternal hyperthermia-induced placental insufficiency (Brown et al., 2015) …

Farm Animals Are Important Biomedical Models, Debora L. Hamernik

Department of Animal Science: Faculty Publications

This issue of Animal Frontiers, “Farm animals are im- portant biomedical models,” describes several examples in which cattle, sheep, pigs, or chickens provide an excellent physiological model for studies related to human health or disease (Figure 1). While previous reports have discussed the use of domestic animals as dual-purpose models that benefit agricultural and biomedical research (Ireland et al., 2008), this issue of Animal Frontiers provides additional and novel examples of the value of farm animals for biomedical re- search. Because farm animals are larger in size than labora- tory species, scientists are able to collect larger volumes and …

The Heritability Of Pampiniform Plexus Vessel Size And Varicocoele In Boars, Tasha R. Gruhot, Lea A. Rempel, Matthew L. Spangler, Stephen D. Kachman, Benny E. Mote

Department of Animal Science: Faculty Publications

Ultrasonography was used to capture a coronal–sagittal image of the veins of the pampiniform plexus (PP) and the testicular artery of 327 maternal‐line boars at approximately 6 months of age at the University of Nebraska—Lincoln. Varicocoele was diagnosed by two methods. Method 1 diagnosed varicocoele when the average vessel area on one side of the scrotum was 1.5 times larger than the average vessel area on the other side of the scrotum. Method 2 diagnosed varicocoele when the average vessel area on one side of the scrotum of a boar was 1.5 times larger than the average vessel on the …

Adaptation Strategies: Ruminants, John B. Gaughan, Veerasamy Sejian, Terry L. Mader, Frank R. Dunshea

Department of Animal Science: Faculty Publications

• Growing populations and reduced access to arable land mean that animal production systems will either need to intensify and/or produce more from a reducing land and other resource base.

• Variable and unpredictable environmental conditions mean that animal production faces numerous challenges. In add- ition to climate, these challenges include increased disease risk, increased nutritional deficiencies, and lack of capital to support diversification.

• Predicted changes in climate will impose selection pressures on traits important for biological fitness (and production).

• Genetic adaptation is important for the future of livestock systems. Animal adaptation involves trade-offs, which must be considered when selecting animals for …

  ---

  Go to article

Livestock Animals To Study Infertility In Women, Mohamed A. Abedal-Majed, Andrea S. Cupp

Department of Animal Science: Faculty Publications

• Anovulation is a major cause of infertility in mammalian females.

• Ovarian research in humans is challenging due to the shortage of “normal tissue” that can be obtained from women that are trying to get pregnant.

• Livestock animals provide valuable resources to investigate the optimal intra-follicular environment required to facilitate folliculogenesis and translate to humans.

• Different livestock models may be more useful depending on the specific biological process studied.

Effect Of Environmental Temperature And Β-Adrenergic Agonist Supplementation On Rumen Volatile Fatty Acid Production In Sheep, Erin M. Duffy, Hannah C. Hamilton, Ty B. Schmidt, Dustin T. Yates, Jessica Lynn Petersen

Department of Animal Science: Faculty Publications

Many environmental and dietary factors affect ruminant livestock performance (Ames, 1980; Carberry et al., 2012). Energy used by ruminants is mainly derived from volatile fatty acids (VFA), including acetate, propionate, and butyrate, which are produced by bacterial fermentation of carbohydrates (Barcroft et al., 1944). With the importance of VFA production in ruminants (Bergman, 1990), it is essential to understand how various conditions livestock may be subjected to, such as ambient conditions and diet, can affect VFA production.

With the profound role of VFA production in energy status of the ruminant, and given that heat stress (HS) events can affect ruminal …

Longitudinal Study Of Humoral Immunity To Bovine Coronavirus, Virus Shedding, And Treatment For Bovine Respiratory Disease In Pre-Weaned Beef Calves, Aspen M. Workman, Larry A. Kuehn, Tara G. Mcdaneld, Michael L. Clawson, John Dustin Loy

Department of Animal Science: Faculty Publications

Background: Bovine coronavirus (BCV) is associated with respiratory infections in cattle of all ages; however, a temporal study to evaluate the effect of BCV immunity on virus shedding and bovine respiratory disease (BRD) incidence in pre-weaned beef calves has not been reported. Thus, we report here a prospective study in three herds of crossbred beef calves (n = 817) with endemic BCV. Serial blood samples for measurement of serum anti-BCV antibody titers and nasal swabs for detection of BCV and other common viral and bacterial BRD pathogens were collected from all calves or subsets of calves at predetermined times …

The Impact Of Heat Load On Cattle, Angela M. Lees, Veerasamy Sejian, Andrea L. Wallage, Cameron C. Steel, Terry L. Mader, Jarrod C. Lees, John B. Gaughan

Department of Animal Science: Faculty Publications

Heat stress and cold stress have a negative influence on cattle welfare and productivity. There have been some studies investigating the influence of cold stress on cattle, however the emphasis within this review is the influence of heat stress on cattle. The impact of hot weather on cattle is of increasing importance due to the changing global environment. Heat stress is a worldwide phenomenon that is associated with reduced animal productivity and welfare, particularly during the summer months. Animal responses to their thermal environment are extremely varied, however, it is clear that the thermal environment influences the health, productivity, and …

Maternal Age Influences The Number Of Primordial Follicles In The Ovaries Of Yearling Angus Heifers, Sarah C. Tenley, Renata Spuri Gomes, Shelby L. Rosasco, Emmalee J. Northrop, Jerica J. J. Rich, Anthony K. Mcneel, Adam F. Summers, Jeremy R. Miles, Chadwick C. Chase Jr., Clay A. Lents, George A. Perry, Jennifer R. Wood, Andrea S. Cupp, Robert A. Cushman

Department of Animal Science: Faculty Publications

The number of antral follicles detectable by ultrasonography in heifers is influenced by age of the dam, because daughters of primiparous cows have fewer antral follicles than daughters of mature cows. We, therefore, hypothesized that heifers with primiparous dams would have fewer primordial follicles in their ovaries than heifers born to mature (4+ y) cows. Angus heifers (n=464) were submitted for ultrasonographic evaluation of antral follicle number at 325, 355, and 385 d of age. Ovaries were collected from a random subset of heifers (n=79) and processed for histological evaluation to determine number of primordial follicles. A greater percentage of …

Reducing Methane Production With Corn Oil And Calcium Sulfate: Responses On Whole-Animal Energy And Nitrogen Balance In Dairy Cattle, J. V. Judy, G. C. Bachman, T. M. Brown-Brandl, S. C. Fernando, K. E. Hales, P. S. Miller, R. R. Stowell, P. J. Kononoff

Department of Animal Science: Faculty Publications

The addition of fat and calcium sulfate to diets fed to ruminants has resulted in a reduction in methane production, but the effects on energy balance have not been studied. A study using indirect calorimetry and 16 multiparous (8 Holstein and 8 Jersey; 78 ± 15 d in milk; mean ± standard deviation) lactating dairy cows was conducted to determine how mitigating methane production by adding corn oil or calcium sulfate to diets containing reduced-fat distillers grains affects energy and nitrogen balance. A replicated 4 × 4 Latin square design with 35-d periods (28 d of adaption and 4 d …

Use Of Indirect Calorimetry To Evaluate Utilization Of Energy In Lactating Jersey Dairy Cattle Consuming Common Coproducts, M. A. Reynolds, T. M. Brown-Brandl, J. V. Judy, K. J. Herrick, K. E. Hales, A. K. Watson, Paul J. Kononoff

Department of Animal Science: Faculty Publications

The use of coproducts as an alternative feed source is a common practice when formulating dairy rations. A study using 12 multiparous (79 ± 16 d in milk; mean ± standard deviation) lactating Jersey cows was conducted over 5 mo to evaluate the effects of dried distillers grains with solubles (DDGS) or canola meal on milk and gas production. A replicated 4 × 4 Latin square design was used to compare 4 dietary treatments. Treatments comprised a control (CON) containing no coproducts, a treatment diet containing 10% (dry matter basis) lowfat DDGS (LFDG), a treatment diet containing 10% high-fat DDGS …

Real Supermodels Wear Wool: Summarizing The Impact Of The Pregnant Sheep As An Animal Model For Adaptive Fetal Programming, Kristin A. Beede, Sean W. Limesand, Jessica L. Petersen, Dustin T. Yates

Department of Animal Science: Faculty Publications

• Intrauterine growth restriction (IUGR) continues to be a global epidemic that is associated with high early-life mortality rates and greater risk for developing metabolic disorders that lower length and quality of life in affected individuals.

• Fetal programming of muscle growth and metabolic function associated with IUGR is often comparable among nonlitter bearing mammalian species, which allows much of the information learned in domestic animal models to be applicable to humans (and other animals).

• Recent studies in sheep models of IUGR have begun to uncover the molecular mechanisms linking adaptive fetal programming and metabolic dysfunction.

• Targets of …

The Impact Of Selective Genotyping On The Response To Selection Using Single-Step Genomic Best Linear Unbiased Prediction, Jeremy T. Howard, Tom A. Rathje, Caitlyn E. Bruns, Danielle F. Wilson-Wells, Stephen D. Kachman, Matthew L. Spangler

Department of Animal Science: Faculty Publications

Across the majority livestock species, routinely collected genomic and pedigree information has been incorporated into evaluations using single-step methods. As a result, strategies that reduce genotyping costs without reducing the response to selection are important as they could have substantial economic impacts on breeding programs. Therefore, the objective of the current study was to investigate the impact of selectively genotyping selection candidates on the selection response using simulation. Populations were simulated to mimic the genome and population structure of a swine and cattle population undergoing selection on an index comprised of the estimated breeding values (EBV) for 2 …

Perturbations In Lineage Specification Of Granulosa And Theca Cells May Alter Corpus Luteum Formation And Function, Mohamed A. Abedel-Majed, Sarah M. Romereim, John S. Davis, Andrea S. Cupp

Department of Animal Science: Faculty Publications

Anovulation is a major cause of infertility, and it is the major leading reproductive disorder in mammalian females. Without ovulation, an oocyte is not released from the ovarian follicle to be fertilized and a corpus luteum is not formed. The corpus luteum formed from the luteinized somatic follicular cells following ovulation, vasculature cells, and immune cells is critical for progesterone production and maintenance of pregnancy. Follicular theca cells differentiate into small luteal cells (SLCs) that produce progesterone in response to luteinizing hormone (LH), and granulosa cells luteinize to become large luteal cells (LLCs) that have a high rate of basal …

Effect Of Harvest Method And Ammoniation Of Baled Corn Residue On Intake And Digestibility In Lambs, Ashley C. Conway, Tasha M. King, Melissa L. Jolly, J. C. Macdonald, Terry J. Klopfenstein, Mary E. Drewnoski

Department of Animal Science: Faculty Publications

To determine the effect of harvest method and ammoniation on both in vivo and in vitro digestibility of corn residue, six corn residue treatments consisting of three different harvest methods either with or without anhydrous ammonia chemical treatment (5.5% of dry matter [DM]) were evaluated. The harvest methods included conventional rake-and-bale (CONV) and New Holland Cornrower with eight rows (8ROW) or two rows (2ROW) of corn stalks chopped into the windrow containing the tailings (leaf, husk, and upper stem) from eight rows of harvested corn (ammoniated bales of each harvest method resulted in treatments COVAM, 8RAM, and 2RAM). Nine crossbred …

Evaluation Of The Effects Of Biochar On Diet Digestibility And Methane Production From Growing And Finishing Steers, Thomas Winders, Melissa L. Jolly, Hannah C. Wilson, James C. Macdonald, Galen E. Erickson, Andrea K. Watson

Department of Animal Science: Faculty Publications

The objectives of these studies were to evaluate the effects of biochar (0%, 0.8%, or 3% of diet dry matter) on diet digestibility and methane and carbon dioxide production from cattle on growing and finishing diets. The growing diet consisted of 21% brome hay, 20% wheat straw, 30% corn silage, 22% wet distillers grains plus solubles, and 7% supplement. The finishing diet consisted of 53% dry-rolled corn, 15% corn silage, 25% wet distillers grains plus solubles, and 7% supplement. In both trials biochar replaced fine ground corn in the supplement. Six crossbred steers (initial body weight [BW] 529 kg; SD …

Crystallographic Structure Determination Of Bacteriophage-Encoded Enzymes That Specifically Target Pathogenic Bacteria, Marta Sanz Gaitero

Theses

Antibiotic resistance is becoming a serious public health concern. Infections that some decades ago could be treated with antibiotics now sometimes do not respond to traditional treatment, causing higher mortality and economic losses. An alternative to the use of antibiotics are bacteria's natural predators, bacteriophages (or phages), and specifically their lytic enzymes. These proteins are produced by phages to degrade bacterial peptidoglycan to inject their genetic material into the bacteria (virion-associated peptidoglycan hydrolases) or to release their progeny once the infection is finished (endolysins). They can be applied exogenously to lyse Gram-positive bacteria or be genetically engineered to lyse Gram-negative …

Performance Differences Between Two Groups Of Commercial Pigs Following Experimental Infection With Prrs Virus 1-7-4, Erin Little

Electronic Theses and Dissertations

Porcine reproductive and respiratory syndrome virus (PRRSV) is the costliest swine disease in North America. Vaccines and management alone have not been effective in controlling this disease. Genetic selection for resilience may be a complimentary approach for controlling PRRSV. The objective of this study was to estimate performance differences between two groups of pigs from the same commercial line following infection with PRRSV 1-7-4: 1) pigs sired by boars selected based on a standard index (TN-S), which emphasized feed efficiency and carcass quality; and 2) pigs sired by boars selected based on an experimental index (TN-E), which emphasized feed intake, …

De Novo Development And Characterization Of Tetranucleotide Microsatellite Loci Markers From A Southeastern Population Of The House Finch (Haemorhous Mexicanus), Edgar E. Sanchez, J Dylan Maddox, Douglas G. Barron

Journal of the Arkansas Academy of Science

Microsatellites are short tandem repeats (e.g. TAGATAGA) of base pairs in a species’ genome. High mutation rates in these regions produce variation in the number of repeats across individuals that can be utilized to study patterns of population- and landscape-level genetics and to determine parentage genetically. In this project our objective was to develop microsatellite markers for the House Finch, Haemorhous mexicanus. This species has become one of the most well-studied species of songbirds due to its unique geographical, evolutionary, and epidemiological history. Using mist-nets we captured birds on the Arkansas Tech University campus and collected blood samples to …

Tiger Monitoring In Bhutan Using Non-Invasive Genetic Tools, Tashi Dhendup

Graduate Student Theses, Dissertations, & Professional Papers

Large carnivores are one of the most threatened group of animals in the world. They suffer from prey depletion, persecution by humans, and habitat loss and fragmentation which are extensively driven by anthropogenic activities. One such species is the tiger Panthera tigris. Tigers are found in thirteen countries in Asia and are protected across the range; however, tiger numbers have declined as an after effect of habitat loss, prey depletion and poaching. Human-induced changes have reduced the tiger's historical range to about 7% in which a little more than 3900 tigers are found. Most of these individuals currently exist …

Chloroviruses Lure Hosts Through Long-Distance Chemical Signaling, David Dunigan, Maitham Ahmed Al-Sammak, Zeina Al-Ameeli, Irina Agarkova, John Delong, James L. Van Etten

James Van Etten Publications

Chloroviruses exist in aquatic systems around the planet where they infect certain eukaryotic green algae that are mutualistic endosymbionts in a variety of protists and metazoans. Natural chlorovirus populations are seasonally dynamic but the precise temporal changes in these populations and the mechanisms that underlie them have, heretofore, been unclear. We recently reported the novel concept that predator/prey-mediated virus activation regulates chlorovirus population dynamics, and in the current manuscript demonstrate virus packaged chemotactic modulation of prey behavior.

Viruses have not previously been reported to act as chemotactic/chemo-attractive agents. Rather, viruses as extracellular entities are generally viewed as non-metabolically active spore-like …

Insects And The Evolution Of Developmental Pathways: Functional Analysis Of Genetic Sex Determination Mechanisms In Oncopeltus Fasciatus, Josefine Just

Honors Theses

Natural selection alters genetic pathways over evolutionary time. However, different pathways have been shown to maintain mutations at varying rates, leading to different levels of conservation across developmental pathways. Sex determination pathways, in particular, show vast diversity across animals despite the fundamental conservation of biological sex itself. Here, I investigated the sex determination pathway of the hemimetabolous insect, Oncopeltus fasciatus. The large milkweed bug, O. fasciatus, is part of the order Hemiptera, which provides a relevant outgroup study to other insects in which sex determination has been studied to date. I studied three sex determination genes, intersex, fruitless …

การวิเคราะห์การกลายพันธุ์ของยีน Cyp21a2 ในผู้ป่วยไทยที่มีภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส, นิธิพัฒน์ ตันติรักษ์ธรรม

Chulalongkorn University Theses and Dissertations (Chula ETD)

โรคต่อมหมวกไตชั้นนอกโตผิดปกติตั้งแต่กำเนิด เป็นโรคทางพันธุกรรมที่พบได้บ่อยที่สุดในกลุ่มโรคต่อมหมวกไตชั้นนอก มากกว่าร้อยละ 90 ของผู้ป่วยโรคนี้มีสาเหตุมาจากภาวะพร่องเอนไซม์ 21-ไฮดรอกซิเลส โดยถ่ายทอดทางพันธุกรรมแบบยีนด้อยบนออโตโซม ซึ่งเกิดจากการกลายพันธุ์ของยีน CYP21A2 ที่มีหน้าที่ควบคุมการสร้างเอนไซม์ 21-ไฮดรอกซิเลส ในวิถีการสังเคราะห์ฮอร์โมนสเตียรอยด์ของฮอร์โมนคอร์ติซอล ยีน CYP21A2 อยู่ในกลุ่มยีนที่มีโครงสร้างซับซ้อน เนื่องจากยีน CYP21A2 มีลำดับนิวคลีโอไทด์เหมือนกันกับยีนเทียม CYP21A1P สูงถึงร้อยละ 98 ส่งผลให้เกิดการครอสโอเวอร์ไม่ตรงกันในระหว่างแบ่งเซลล์แบบไมโอซิส บางแอลลีลมีการขาดหายขนาดใหญ่และได้ผลิตภัณฑ์เป็นยีนลูกผสมกับยีนเทียมที่ไม่สามารถทำงานได้ และบางแอลลีลมียีนคอนเวอร์ชัน ทำให้ส่วนหนึ่งของยีน CYP21A2 ถูกแทนที่ด้วยส่วนหนึ่งของยีนเทียม CYP21A1P ส่วนที่ถูกแทนที่ดังกล่าวจึงได้รับการแปรผันทางพันธุกรรมที่พบบนยีนเทียม CYP21A1P มาด้วย การกลายพันธุ์เหล่านี้ไม่สามารถตรวจพบได้ด้วยเทคนิคการหาลำดับนิวคลีโอไทด์ด้วยหลักการของแซงเกอร์หรือเทคนิค MLPA เพียงเทคนิคเดียว การศึกษานี้ใช้เทคนิคการเพิ่มปริมาณยีนแบบจำเพาะโลคัส (locus-specific PCR) ร่วมกับเทคโนโลยีวิเคราะห์หาลำดับนิวคลีโอไทด์โมเลกุลเดียวตามเวลาจริงแบบสายยาว (long-read single molecule real-time sequencing, long-read SMRT sequencing) ในการหาการกลายพันธุ์ในบริเวณที่ซับซ้อนและสามารถพบการกลายพันธุ์ทั้งหมดในผู้ป่วยไทยจำนวน 49 ราย โดยชนิดของการกลายพันธุ์ที่พบ ได้แก่ การกลายพันธุ์ตำแหน่งตัดเชื่อม การกลายพันธุ์แบบเปลี่ยนรหัส การกลายพันธุ์เป็นรหัสหยุด การกลายพันธุ์แบบเลื่อนกรอบ และการขาดหายขนาดใหญ่ของยีน โดยพบการกลายพันธุ์ตำแหน่ง IVS2-13A/C>G จำนวน 37 แอลลีล เป็นตำแหน่งที่มีความถี่แอลลีลสูงที่สุด มีความถี่แอลลีลเท่ากับ 0.378 นอกจากนี้ ยังพบการกลายพันธุ์ใหม่ตำแหน่ง IVS7+1G>T ซึ่งเป็นตำแหน่งที่น่าจะมีผลกระทบต่อตำแหน่งตัดเชื่อม การใช้เทคนิคการเพิ่มปริมาณยีนแบบจำเพาะโลคัสร่วมกับเทคโนโลยีวิเคราะห์หาลำดับนิวคลีโอไทด์โมเลกุลเดียวตามเวลาจริงแบบสายยาวนี้ สามารถหาสาเหตุทางพันธุกรรมของยีน CYP21A2 ที่มีความซับซ้อนได้ ซึ่งข้อมูลที่ได้สามารถใช้ในการให้คำปรึกษาทางพันธุศาสตร์ที่เหมาะสมแก่ผู้ป่วยและครอบครัวได้