Gene mapping of a nonsyndromic hearing impairmint family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 89-93, 2003.
Article
in Chinese
| WPRIM
| ID: wpr-248487
ABSTRACT
<p><b>OBJECTIVE</b>To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family.</p><p><b>METHODS</b>Firstly, 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The 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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Chromosomes, Human, Pair 17
/
Chromosomes, Human, Pair 18
/
Family Health
/
Chromosome Mapping
/
Consanguinity
/
Microsatellite Repeats
/
Genetic Predisposition to Disease
/
Chromosomes, Human, X
/
Genetics
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2003
Type:
Article
Similar
MEDLINE
...
LILACS
LIS