非综合征型唇裂伴或不伴腭裂的遗传方式  

Study on the mode of inheritance of nonsyndromic cleft Lip and/or palates

作　　者：汪云[1] 朱文丽[1] 郭晋臻[1] 宋晓明[1] 李书琴[2] 李勇[1] 

机构地区：[1]北京大学医学部公共卫生学院营养与食品卫生学系,北京100191 [2]中国医科大学盛京医院

出　　处：《中国生育健康杂志》2009年第1期23-26,共4页Chinese Journal of Reproductive Health

摘　　要：目的为探讨非综合征型唇裂伴或不伴腭裂的遗传方式,对其高发家系进行遗传学研究。方法采用分离分析法和多基因阈值理论分析法对37个非综合征型唇裂伴或不伴腭裂的高发家系进行分析。结果先证者的亲属患病率分别是一级亲属为29.89%(26/87),二级亲属为2.70%(4/148);其亲属发病率高低与血缘关系近远相关,与先证者血缘关系越近的亲属患病率越高;非综合征型唇裂伴或不伴腭裂的遗传方式不同于常染色体单基因显性、隐性遗传及性连锁遗传,而符合多基因遗传,其一级、二级亲属加权平均遗传度为(148.40±8.20)%。结论非综合征型唇裂伴或不伴腭裂的遗传方式为多基因遗传。Objective To study the mode of inheritance of nonsyndromic cleft Lip and/or palates （NSCL/P）. Methods 37 families with NSCL/P were studied using segregation analysis method and polygenic threshold analyzing method. Results The prevalence of NSCL/P in primary relatives was 29. 89 % （26/87） , and was 2. 70 % （4/148） in secondary relatives. The prevalence of NSCL/P in relatives is related to the extent of the consanguinity. The higher the extent of the relation to the proband is, the higher the prevalence is. The inheritance mode of NSCL/P is quite different from monogenes autosomal dominant （AD） , autosomal recessive （AR） and the sex- linked inheritance, while it does accord with polygenic inheritance mode. The combined heritability among primary and secondary relatives was （ 148.40 ± 8. 20） %. Conclusion The inheritance mode of NSCL/P is polygenic inheritance.

关 键 词：非综合征型唇裂伴或不伴腭裂 单基因遗传 多基因遗传 遗传度 

分 类 号：R782.2[医药卫生—口腔医学] R394[医药卫生—临床医学]