Gene mapping of a nonsyndromic hearing impairmint family.
- Author:
Lin CHENG
1
;
Yaoqin GONG
;
Qiji LIU
;
Bingxi CHEN
;
Chenhong GUO
;
Jiangxia LI
;
Xiyu ZHANG
;
Yong LU
;
Guimin GAO
;
Haibin ZHOU
;
Yishou GUO
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Mapping; methods; Chromosomes, Human, Pair 17; genetics; Chromosomes, Human, Pair 18; genetics; Chromosomes, Human, X; genetics; Consanguinity; Family Health; Female; Genetic Predisposition to Disease; genetics; Hearing Loss, Sensorineural; genetics; Humans; Male; Microsatellite Repeats; Pedigree
- From: Chinese Journal of Medical Genetics 2003;20(2):89-93
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.
METHODSFirstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region.
RESULTSThe nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5.07 cM interval bounded by D17S1850 and D17S1818.
CONCLUSIONThe disease gene of the family is mapped to a 5.07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.
