智利面部裂隙的复杂分离分析。

Complex segregation analysis of facial clefting in Chile.

作者信息

Palomino H, Cerda-Flores R M, Blanco R, Palomino H M, Barton S A, de Andrade M, Chakraborty R

机构信息

Instituto de Malformaciones y Deformaciones Maxilofaciales, Facultad de Odontología, Universidad de Chile, Santiago.

出版信息

J Craniofac Genet Dev Biol. 1997 Apr-Jun;17(2):57-64.

PMID:9224940

Abstract

Nonsyndromic cleft lip with or without cleft palate (CL/P) has an incidence of 1.5 per 1,000 live births in Chile, with 1.7 per 1,000 in males and 1.3 per 1,000 in females, which is nearly the same as the level found in Asian populations. The high rate of occurrence of CL/P in Chile is probably due to the presence of Amerindian genes in Chilean populations. Using the computer program PAP, a complex segregation analysis of CL/P was conducted for 67 multigeneration pedigrees from Chile, each ascertained from one affected proband. These pedigrees yielded 162 affected individuals and over 898 family members who were included in the analysis. The most parsimonious model of transmission indicated the presence of an autosomal dominant gene with reduced (20-25%) penetrance.

摘要

在智利，非综合征性唇裂伴或不伴腭裂（CL/P）的发病率为每1000例活产中有1.5例，男性发病率为每1000例中有1.7例，女性为每1000例中有1.3例，这与亚洲人群的发病率几乎相同。智利CL/P的高发病率可能是由于智利人群中存在美洲印第安人基因。使用计算机程序PAP，对来自智利的67个多代系谱进行了CL/P的复杂分离分析，每个系谱均从一名受影响的先证者确定。这些系谱产生了162名受影响个体和超过898名家庭成员，他们被纳入分析。最简约的遗传模式表明存在一个外显率降低（20%-25%）的常染色体显性基因。