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首页> 美国卫生研究院文献>American Journal of Human Genetics >Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.
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Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

机译：对24个Alagille综合征家族的分子分析确定了单个亚显微缺失并将Alagille区域进一步定位在20p12内。

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摘要

Alagille syndrome (AGS) is a clinically defined disorder characterized by cholestatic liver disease with bile duct paucity, peculiar facies, structural heart defects, vertebral anomalies, and ocular abnormalities. Multiple patients with various cytogenetic abnormalities involving 20p12 have been identified, allowing the assignment of AGS to this region. The presence of interstitial deletions of varying size led to the hypothesis that AGS is a contiguous gene deletion syndrome. This molecular analysis of cytogenetically normal AGS patients was performed in order to test this hypothesis and to refine the localization of the known AGS region. Investigation of inheritance of simple tandem repeat polymorphism alleles in 67 members of 24 cytogenetically normal Alagille families led to the identification of a single submicroscopic deletion. The deletion included loci D20S61, D20S41, D20S186, and D20S188 and presumably intervening uninformative loci D20S189 and D20S27. The six deleted loci are contained in a single YAC of 1.9 Mb. The additional finding of multiple unrelated probands who are heterozygous at each locus demonstrates that microdeletions at known loci within the AGS region are rare in cytogenetically normal patients with this disorder. This suggests that the majority of cases of AGS may be the result of a single gene defect rather than a contiguous gene deletion syndrome.
机译：Alagille综合征（AGS）是一种临床定义的疾病，其特征为胆汁淤积性肝病，胆管功能不全，特殊相，结构性心脏缺陷，椎骨异常和眼部异常。已鉴定出多例涉及20p12的各种细胞遗传学异常的患者，从而允许将AGS分配到该区域。大小不一的间质性缺失的存在导致AGS是一种连续的基因缺失综合征的假说。进行了细胞遗传学正常的AGS患者的这种分子分析，以检验该假设并完善已知AGS区域的定位。调查24个细胞遗传学正常的Alagille家族的67个成员中的简单串联重复多态性等位基因的遗传，导致鉴定出单个亚显微缺失。删除包括基因座D20S61，D20S41，D20S186和D20S188，并可能介入了无信息的基因座D20S189和D20S27。六个删除的基因座包含在单个1.9 Mb的YAC中。在每个基因座处杂合的多个不相关的先证者的其他发现表明，在患有这种疾病的细胞遗传学正常患者中，AGS区域内已知基因座的微缺失很少。这表明大多数AGS病例可能是单个基因缺陷而不是连续基因缺失综合征的结果。

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