The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies

被引：11

作者：

Brock, DJH ^{[1
]}

Gilfillan, A ^{[1
]}

Holloway, S ^{[1
]}

机构：

[1] Univ Edinburgh, Western Gen Hosp, Mol Med Ctr, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland

来源：

CLINICAL GENETICS | 1998年 / 53卷 / 01期

关键词：

allele selection; cystic fibrosis; disease incidence; dominant mild; heterozygote frequency;

D O I：

10.1034/j.1399-0004.1998.531530109.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The incidence of cystic fibrosis (CF) has previously been calculated from epidemiological surveys and from neonatal screening. With the cloning of the CF gene it has become possible to derive incidence figures from heterozygote frequencies, provided that the distribution of mutant alleles among healthy carriers is the same as among affected people. We have estimated the allele frequencies for four CF mutations, Delta F508, G551D, G542X and R117H, in 14 360 unselected women undergoing antenatal heterozygote screening. The proportion of R117H, an allele of known mild effect, was much greater for heterozygotes than for homozygotes. The incidence of CF was therefore calculated from the heterozygote frequencies of Delta F508, G551D and G542X in a larger cohort of 27161 successively screened women. The point estimate for the incidence of CF in the Scottish population was 1 in 1984, with 95% confidence intervals of 1 in 1692 to 1 in 2336.

引用

页码：47 / 49

页数：3

共 13 条

[1] A SINGLE-TUBE MULTIPLEX SYSTEM FOR THE SIMULTANEOUS DETECTION OF 10 COMMON CYSTIC-FIBROSIS MUTATIONS [J].