کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2811864 | 1569288 | 2008 | 7 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23 Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23](/preview/png/2811864.png)
Infantile hypertrophic pyloric stenosis (IHPS) has an incidence of 1–8 per 1000 live births and is inherited as a complex sex-modified multifactorial trait with a striking male preponderance. Syndromic and monogenic forms exist, and two loci have been identified. Infants present with vomiting due to gastric-outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. A genome-wide SNP-based high-density linkage scan was carried out on 81 IHPS pedigrees. Nonparametric and parametric linkage analysis identified loci on chromosomes 11q14-q22 (Zmax = 3.9, p < 0.0001; HLODmax = 3.4, α = 0.34) and Xq23 (Zmax = 4.3, p < 0.00001; HLODmax = 4.8, α = 0.56). The two linked chromosomal regions each harbor functional candidate genes that are members of the canonical transient receptor potential (TRPC) family of ion channels and have a potential role in smooth-muscle control and hypertrophy.
Journal: - Volume 82, Issue 3, 3 March 2008, Pages 756–762