Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.
Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.
复制标题
使用晶状体特异性 DNA 探针和多态性表型标记对常染色体显性先天性白内障进行遗传连锁分析。
DOI：
10.1016/s0161-6420(88)33153-2
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发表时间：
1988
期刊：
影响因子：
13.7
通讯作者：
Bateman,JB
中科院分区：
文献类型：
--
作者：
Barrett,DJ;Sparkes,RS;Gorin,MB;Bhat,SP;Spence,MA;Marazita,ML;Bateman,JB
对一个常染色体显性遗传性先天性白内障(ADCC)家系进行了23个表型多态标记的连锁分析和DNA限制性片段长度多态(RFLP)检测。共有19名家庭成员接受了研究，其中10名成员出现了胚胎晶状体混浊。β-晶体蛋白、γ-晶体蛋白和晶状体纤维膜的主要固有蛋白的DNA探针排除了这些基因的缺陷是导致该家族白内障的原因，拒绝了紧密连锁。多态表型标记没有产生有统计学意义的Lod评分。这些结果支持ADCC的遗传异质性。
The authors studied a four-generation family with autosomal dominant congenital cataracts (ADCCs) using linkage analysis with 23 polymorphic phenotypic markers and DNA restriction fragment length polymorphisms (RFLPs) detected by lens-specific DNA probes. A total of 19 family members were studied and the ten affected members had embryonal lens opacities. Close linkage was rejected with DNA probes encoding β-crystallin, γ-crystallin, and the major intrinsic protein of the lens fiber membrane (MIP) excluding defects of these genes as the cause of the cataract in this family. No statistically significant lod scores were produced with the polymorphic phenotypic markers. These results support the genetic heterogeneity of ADCCs.