THE GENE FOR AN INHERITED FORM OF DEAFNESS MAPS TO CHROMOSOME-5Q31

被引：128
作者：
LEON, PE
RAVENTOS, H
LYNCH, E
MORROW, J
KING, MC
机构：
[1] UNIV CALIF BERKELEY,SCH PUBL HLTH,BERKELEY,CA 94720
[2] UNIV CALIF BERKELEY,DEPT MOLEC & CELL BIOL,BERKELEY,CA 94720
来源：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 1992年 / 89卷 / 11期
关键词：
D O I：
10.1073/pnas.89.11.5181
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
Primary-i.e., nonsyndromal-postlingual deafness is inherited as an autosomal dominant phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose hearing at low frequencies at about age 10 years, after language and speaking are learned. Deafness inevitably progresses by age 30 years to bilateral hearing loss of all frequencies. Intelligence, fertility, and life expectancy are normal. The family traces its ancestry to an affected founder born in Costa Rica in 1754. We have mapped the gene for deafness in this kindred to chromosome 5q31, between the markers IL9 and GRL, by linkage analysis involving 99 informative relatives.
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页码：5181 / 5184
页数：4
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