两名患有家族性耳聋的巴基斯坦兄弟中，、和基因存在新的有害突变。
Novel deleterious mutation in , and in two Pakistani brothers with familial deafness.
作者信息
Sabiha Bibi, Ali Johar, Yousafzai Yasar Mehmood, Haider Syed Adnan
机构信息
Bibi Sabiha, Center for Genomic Sciences, Rehman Medical College, Phase-V, Hayatabad, Peshawar, KP, Pakistan.
Johar Ali, Center for Genomic Sciences, Rehman Medical College, Phase-V, Hayatabad, Peshawar, KP, Pakistan.
出版信息
Pak J Med Sci. 2019 Jan-Feb;35(1):17-22. doi: 10.12669/pjms.35.1.98.
OBJECTIVE
In Pakistan, 74% of consanguineous marriages are among the first cousins. Continuity of consanguineous marriages over generations increases the risk of recessive diseases such as deafness. The objective of this study was to investigate genetic origin of Pakistani deaf brothers with parents of consanguineous marriage.
METHODS
DNA was extracted from the blood through Qiagen kit. Paired-end sequencing library was prepared according to protocol of Illumina's TruSight Rapid Capture kit and TruSight Inherited Disease Panel. Library was normalized and used for Next Generation Sequencing through MiSeq. NGS data were analyzed using various bioinformatics tools.
RESULTS
Both brothers were found to have novel deleterious mutation in (c.2476G>A) while the younger brother had additional novel deleterious mutation in (c.43C>T) and (c.2614C>T) genes.
CONCLUSION
It is concluded that in addition to novel mutations in and , the can also be responsible for deafness in the family with consanguineous marriages.
目的
在巴基斯坦，74%的近亲婚姻发生在表亲之间。近亲婚姻代代延续会增加诸如耳聋等隐性疾病的风险。本研究的目的是调查父母为近亲婚姻的巴基斯坦耳聋兄弟的遗传起源。
方法
通过Qiagen试剂盒从血液中提取DNA。根据Illumina公司的TruSight Rapid Capture试剂盒和TruSight遗传性疾病检测板的方案制备双端测序文库。文库经标准化处理后用于通过MiSeq进行下一代测序。使用各种生物信息学工具分析NGS数据。
结果
发现两兄弟在 （c.2476G>A） 中有新的有害突变，而弟弟在 （c.43C>T） 和 （c.2614C>T） 基因中有额外的新有害突变。
结论
得出结论，除了 和 中的新突变外， 在近亲婚姻家庭的耳聋中也可能起作用。
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