{Reference Type}: Journal Article
{Title}: [Genetic study of a pedigree affected with oculodentodigital dysplasia].
{Author}: Gu L;Zhu Y;Zhu X;Li J;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 36
{Issue}: 12
{Year}: Dec 2019 10
暂无{DOI}: 10.3760/cma.j.issn.1003-9406.2019.12.010
{Abstract}: <B>OBJECTIVE: </B>To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).<BR><B>CONCLUSIONS: </B>The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.