[一个患有眼齿指发育不良的家系的遗传学研究]
[Genetic study of a pedigree affected with oculodentodigital dysplasia].
作者信息
Gu Leilei, Zhu Yujie, Zhu Xiangyu, Li Jie
机构信息
Prenatal Diagnosis Center, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Dec 10;36(12):1191-1194. doi: 10.3760/cma.j.issn.1003-9406.2019.12.010.
OBJECTIVE
To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.
METHODS
Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.
RESULTS
Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).
CONCLUSION
The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.
目的
探究一个患有眼牙指发育不全的家系的遗传基础。
方法
从该家系的外周血或羊水样本中提取基因组DNA。对GJA1基因的第2外显子进行扩增以进行测序。
结果
发现两名家系成员携带GJA1基因的杂合错义变异，即c.221A>C（p.H74P）。
结论
GJA1基因的错义c.221A>C变异可能是该家系眼牙指发育不全的病因。
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