【摘 要】
：
Congenital hypothyroidism is a common genetic disorder in which some genes have been implicated including Paired box gene 8 (PAX8) gene.Our study was to determine the nature and frequency of PAX8 gene
【机 构】
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Guangxi Maternal and Child Health Hospital,Nanning
【出 处】
：
2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Congenital hypothyroidism is a common genetic disorder in which some genes have been implicated including Paired box gene 8 (PAX8) gene.Our study was to determine the nature and frequency of PAX8 gene mutations among patients with CH in Guangxi Zhuang Autonomous Region, China.We enrolled 192 CH patients, who were identified through newborn screening among 375,000 newborns born in Guangxi Zhuang Autonomous Region, China, from October 2007 to June 2013.Next generation sequencing was used for screening PAX8 gene mutations.Analysis of PAX8 in 192 CH patients revealed four mutations in four unrelated patients.The mutations included one known missense mutation 92G＞A (R31H), and one novel missense mutation 68G＞T(G23V), as well as two novel nonsense mutations, 1090C＞T(R364X) and 658C＞T (R220X).
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