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Articles 1 - 3 of 3
Full-Text Articles in Genetic Phenomena
An In-Depth Review Of Retinitis Pigmentosa Development And Pathologies Overtime In Patients, Abdul Harris
An In-Depth Review Of Retinitis Pigmentosa Development And Pathologies Overtime In Patients, Abdul Harris
Honors College Theses
Retinitis Pigmentosa is a disease which can cause blindness and affects around 2.5 million people worldwide. It is a disorder that has a multitude of ways of being inherited, such as autosomal dominant, autosomal recessive as well as X-linked and mitochondrial linked disorder. While some versions of RP may be syndromic (20%-30%), a majority of cases are in fact non-syndromic. The majority of non-syndromic cases inherited via autosomal dominant RP having RHO gene mutations, and X-linked means of inheritance having majority of patients with RPGR gene mutations. Ushers Syndrome, a syndromic version of retinitis pigmentosa and autosomal recessive RP having …
Pedigree Structure And Kinship Measurements Of A Mid-Michigan Community: A New North American Population Isolate Identified, Joseph D. Bonner, Rachel Fisher, James Klein, Qing Lu, Ellen Wilch, Karen H. Friderici, Jill L. Elfenbein, Debra L. Schutte, Brian C. Schutte
Pedigree Structure And Kinship Measurements Of A Mid-Michigan Community: A New North American Population Isolate Identified, Joseph D. Bonner, Rachel Fisher, James Klein, Qing Lu, Ellen Wilch, Karen H. Friderici, Jill L. Elfenbein, Debra L. Schutte, Brian C. Schutte
Human Biology Open Access Pre-Prints
Previous studies identified a cluster of individuals with an autosomal recessive form of deafness that resides in a small region of mid-Michigan. We hypothesized that affected members from this community descend from a defined founder population. Using public records and personal interviews, we constructed a genealogical database that includes the affected individuals and their extended families as descendants of 461 settlers who emigrated from the Eifel region of Germany between 1836 and 1875. The genealogical database represents a 13-generation pedigree that includes 27,747 descendants of these settlers. Among these descendants, 13,784 are presumed living. Many of the extant descendants reside …
Lactase Persistence Variants In Arabia And In The African Arabs, Edita Priehodova, Abdelhay Abdelsawy, Evelyne Heyer, Viktor Cerny
Lactase Persistence Variants In Arabia And In The African Arabs, Edita Priehodova, Abdelhay Abdelsawy, Evelyne Heyer, Viktor Cerny
Human Biology Open Access Pre-Prints
Lactase persistence (LP), the state enabling the digestion of milk sugar in adulthood occurs only in some human populations. The convergent and independent origin of this physiological ability in Europe and Africa is linked with animal domestication that had either started in both places independently or had spread from the Near East by acculturation. However, it has recently been shown that at least in its southern parts, the population of Arabia not only has a different LP-associated mutation profile than the rest of Africa and Europe but had also experienced an independent demographic expansion occurring before the Neolithic around the …