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High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus, Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J. Williams, Gerard Tromp
High-Resolution Physical Map For Chromosome 16q12.1-Q13, The Blau Syndrome Locus, Xiaoju Wang, Helena Kuivaniemi, Gina Bonavita, Charlene J. Williams, Gerard Tromp
Wayne State University Associated BioMed Central Scholarship
Abstract
Background
The Blau syndrome (MIM 186580), an autosomal dominant granulomatous disease, was previously mapped to chromosome 16p12-q21. However, inconsistent physical maps of the region and consequently an unknown order of microsatellite markers, hampered us from further refining the genetic locus for the Blau syndrome. To address this problem, we constructed our own high-resolution physical map for the Blau susceptibility region.
Results
We generated a high-resolution physical map that provides more than 90% coverage of a refined Blau susceptibility region. The map consists of four contigs of sequence tagged site-based bacterial artificial chromosomes with a total of 124 bacterial artificial …
Search For Intracranial Aneurysm Susceptibility Gene(S) Using Finnish Families, Jane M. Olson, Sompong Vongpunsawad, Helena Kuivaniemi, Antti Ronkainen, Juha Hernesniemi, Markku Ryynã¤Nen, Lee-Lian Kim, Gerard Tromp
Search For Intracranial Aneurysm Susceptibility Gene(S) Using Finnish Families, Jane M. Olson, Sompong Vongpunsawad, Helena Kuivaniemi, Antti Ronkainen, Juha Hernesniemi, Markku Ryynã¤Nen, Lee-Lian Kim, Gerard Tromp
Wayne State University Associated BioMed Central Scholarship
Abstract
Background
Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci.
Methods
We previously estimated sibling relative risk in the Finnish population at between …