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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Cromossomos Humanos Par 17
/
Cromossomos Humanos Par 18
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Saúde da Família
/
Mapeamento Cromossômico
/
Consanguinidade
/
Repetições de Microssatélites
/
Predisposição Genética para Doença
/
Cromossomos Humanos X
/
Genética
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2003
Tipo de documento:
Artigo
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