一种导致组织细胞增多症、关节挛缩和感音神经性耳聋的罕见常染色体隐性综合征的纯合子定位至11号染色体11q25区域。
Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.
作者信息
Moynihan L M, Bundey S E, Heath D, Jones E L, McHale D P, Mueller R F, Markham A F, Lench N J
机构信息
Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom.
出版信息
Am J Hum Genet. 1998 May;62(5):1123-8. doi: 10.1086/301824.
Abstract
We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected individuals. A maximum two-point LOD score of 3.42 (recombination fraction straight theta = .00) was obtained with marker D11S968. This is the first genetic locus to be described that is involved in the molecular pathogenesis of histiocytosis.
摘要
我们描述了一个来自巴基斯坦的高度近亲结婚家庭，该家庭呈现组织细胞增多症、关节挛缩和感音神经性耳聋。这个家庭所表现出的组织细胞增多症形式不易归入该疾病任何已公认的类别。它似乎代表了一种显示常染色体隐性遗传的新型家族性组织细胞增多症。通过纯合性定位，我们在受影响个体中确定了位于11号染色体q25区域约1厘摩的一个纯合区域。标记D11S968获得的最大两点连锁对数得分为3.42（重组率直θ = 0.00）。这是首个被描述的与组织细胞增多症分子发病机制相关的基因位点。
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