有汗型外胚叶发育不良患者GJB6基因突变检测
发布时间：2018-08-15 14:21
【摘要】：目的:检测以脱发、甲营养不良为主要表现的有汗型外胚叶发育不良一家系的GJB6基因突变情况。方法:收集患者临床资料,提取患者及其相关亲属外周血DNA,采用PCR扩增GJB6基因编码区的全部外显子及其侧翼序列并测序。结果:基因检测发现患者GJB6基因编码序列第263号核苷酸发生c.263CT(p.A88V)杂合突变,突变来自于父亲。结论:GJB6基因编码序列第263号核苷酸发生c.263CT(p.A88V)杂合突变可能为引起该患儿及患病亲属临床表现的原因。
[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.
【作者单位】： 福建医科大学附属第一医院皮肤科;石狮市医院皮肤科;北京大学第一医院皮肤科;中国医学科学院北京协和医学院皮肤病研究所;
【分类号】：R758.5
本文编号：2184474
[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.
【作者单位】： 福建医科大学附属第一医院皮肤科;石狮市医院皮肤科;北京大学第一医院皮肤科;中国医学科学院北京协和医学院皮肤病研究所;
【分类号】：R758.5
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