视网膜色素变性，I型常染色体显性遗传：在一个来自英国的南非大家庭中排除与D3S47（C17）的连锁关系。
Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.
作者信息
Greenberg J, Babaya M, Ramesar R, Beighton P
机构信息
MRC Research Unit for Inherited Skeletal Disorders, Department of Human Genetics, University of Cape Town, Medical School, South Africa.
出版信息
Clin Genet. 1992 Jun;41(6):322-5. doi: 10.1111/j.1399-0004.1992.tb03406.x.
Abstract
Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3. This finding is further evidence for genetic heterogeneity in ADRP.
摘要
对一个起源于英国的南非大家庭进行了连锁分析，该家族6代中有39人患有早发性常染色体显性遗传性视网膜色素变性（ADRP）。排除了该疾病与3号染色体上D3S47位点之间的紧密连锁。这一发现进一步证明了ADRP存在遗传异质性。
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