【摘要】：目的:檢測以脫發(fā)、甲營養(yǎng)不良為主要表現(xiàn)的有汗型外胚葉發(fā)育不良一家系的GJB6基因突變情況。方法:收集患者臨床資料,提取患者及其相關(guān)親屬外周血DNA,采用PCR擴增GJB6基因編碼區(qū)的全部外顯子及其側(cè)翼序列并測序。結(jié)果:基因檢測發(fā)現(xiàn)患者GJB6基因編碼序列第263號核苷酸發(fā)生c.263CT(p.A88V)雜合突變,突變來自于父親。結(jié)論:GJB6基因編碼序列第263號核苷酸發(fā)生c.263CT(p.A88V)雜合突變可能為引起該患兒及患病親屬臨床表現(xiàn)的原因。
[Abstract]:Objective: to detect the mutation of GJB6 gene in a pedigree with alopecia and nail dystrophy. Methods: the clinical data of the patients were collected and the peripheral blood DNA of the patients and their relatives were extracted. All the exons and their flanking sequences of the coding region of GJB6 gene were amplified by PCR and sequenced. Results: c.263CT (p.A88V) heterozygosity was found in the 263 nucleotide sequence of GJB6 gene coding sequence in the patients, and the mutation came from the father. Conclusion the mutation of c.263CT (p.A88V) heterozygosity at the 263 nucleotide sequence of the gene encoding the GJB6 gene may be the cause of the clinical manifestations of the child and his relatives.
【作者單位】： 福建醫(yī)科大學附屬第一醫(yī)院皮膚科;石獅市醫(yī)院皮膚科;北京大學第一醫(yī)院皮膚科;中國醫(yī)學科學院北京協(xié)和醫(yī)學院皮膚病研究所;
【分類號】：R758.5

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