摘要
非综合征性唇腭裂属于人类最常见的先天性畸形,是基因遗传和环境因素相互作用所致的多基因多因素遗传疾病,是一类极具挑战性和研究价值的遗传病。近年来利用分子生物学等技术方法寻找导致非综合征性唇腭裂的基因位点的研究有很多进展,其中关于非综合征性唇腭裂与转化生长因子α(TGFα)基因的关系,不同的研究有不同结论,众说纷纭,本文现对其研究现状进行综述。
Congenital cleft of the lip and/or palate is one of the most common human birth defeαs. It can be divided into syndromic clefts and non - syndromic clefts , and the latter contains non - syndromic cleft lip with or without cleft palate （ NSCL/P or CL ＋ -P） and cleft palate only （CPO）. It＇s a type of polygene inherited disease influenced both by genes and environmental faαors. Colleαively NSCL/P has a major clinical impaα requiring surgical, dental, speech and psychological treatments or therapies throughout childhood. Using a combination of gene targeting technology and molecule biology technology , significant progress has been made in the identification of numerous genes. But there＇re controversies about the research conclusion of relationship between TGFα and NSCL/ P, because the genetics of non - syndromic clefts is complex.
出处
《中国优生与遗传杂志》
2007年第6期1-4,共4页
Chinese Journal of Birth Health & Heredity
关键词
唇裂
腭裂
转化生长因子Α
多态性
Cleft lip
Cleft palate
Transforming growth faαor - α
Polymorphisms
