遗传异质性Crigler-Najjar综合症的I型:14例的研究。
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Labrune P, Myara Hadchouel M, Ronchi F,伯纳德·O Trivin F, Chowdhury NR, Chowdhury JR Munnich, Odievre M
遗传异质性Crigler-Najjar综合症的I型:14例的研究。
哼麝猫。1994年12月,94 (6):693 - 7。
- PubMed ID
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7989045 (在PubMed]
- 文摘
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Crigler-Najjar综合症I型(CN-I)是一种常染色体隐性遗传的特点是严重的非结合的缺乏引起的高胆红素血bilirubin-UDP-glucuronosyltransferase (B-UGT)活动在肝脏。两个B-UGTs编码的基因复杂(UGT1)映射到2号染色体的地区,还编码两个phenol-UDP-glucuronosyltransferases。在这里,我们报告十一突变(包括9个小说突变)B-UGT1基因的14大系列无关CN-I儿童各种地理起源:法国(七个病人:A401P、Q357X W335X, A368T, 1223 insg A291V, K426E, K437X);葡萄牙(两个病人:G308E);突尼斯(两个病人;Q357R);土耳其(一个病人:S381R);意大利(两个兄弟:S381R)。有趣的是,6/14的突变等位基因由无关的法国血统的渊源者A401P突变,表明创始人效果;这种效应也可能出现在葡萄牙、土耳其和突尼斯。 Since mutations occurred in exons 2-5 shared by all mRNAs species of the gene, a combined deficiency of B-UGT and P-UGT was observed in the liver of five patients in whom these activities were measured. The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa.