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首页> 外文期刊>The Australasian journal of dermatology >Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
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Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

机译：巴基斯坦近亲性常染色体隐性遗传不足的外胚层发育异常的分子遗传学分析。

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摘要

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia.
机译：低湿性外胚层发育不良是一种遗传性疾病，其特征是牙齿，毛发和汗腺发育不良。 X连锁的多汗外胚层发育不良是由EDA基因突变引起的，常染色体形式的多汗外胚层发育不良是由EDAR或EDARADD基因突变引起的。为了研究巴基斯坦三个近亲家庭（A，B和C）常染色体隐性遗传不足的外胚层外胚层发育不良的分子遗传学原因，使用与2q11-q13染色体上的EDAR基因密切相关的多态性微卫星标记对13个个体进行了基因分型。和EDARADD基因位于1q42.2-q43染色体上。结果显示这三个家族与EDAR基因座相关。 EDAR基因编码外显子和剪接点的序列分析揭示了两个突变：A和B家族先证者的新的无义突变（p.E124X）和该家族先证者的错义突变（p.G382S）。 C.另外，还鉴定了两个同义的单核苷酸多态性。巴基斯坦家庭中突变的发现扩大了支持EDAR对发育不良的外胚层皮肤异型增生的重要性的证据。

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