A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: Evidence from pedigree segregation analysis
作者:
Xiangdong Bu,
Mordechai Shohat,
Lutfi Jaber,
Jerome I. Rotter,
期刊:
Genetic Epidemiology
(WILEY Available online 1993)
卷期:
Volume 10,
issue 1
页码: 3-15
ISSN:0741-0395
年代: 1993
DOI:10.1002/gepi.1370100102
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: deafness;mitochondrial;segregation analysis;two‐locus
数据来源: WILEY
摘要:
AbstractWe have previously reported a large Israili‐Arab pedigree with sensorineural deafness possibly determined simultaneously by two loci‐one mitochondrial, and one autosomal recessive. This was analyzed by extending classic segregation analysis methods to the many nuclear families derived from the maternal line pedigree. Here we expand this pedigree and extend our analysis by using the regressive models for segregation analysis on the entire pedigree. The corresponding REGD computer program was utilized and the marrying‐in males' and paternal line members' affection statuses were assigned as unknown to accommodate the exclusive maternal transmission pattern. For the autosomal locus, a simple autosomal recessive (q= 0.52) model with a nearly complete penetrance (0.93) was found to be the regressive models to test the hypothesis of mitochondrial mutation occurred in a heteroplasmic distribution in the family members, this could not explain the familial aggregation in this pedigree, and an autosomal recessive locus is still required. These results provide further support for the concept that the sensorineural deafness occurring in this large Israeli‐Arab pedigree results from simultaneous involvement of two genes at two different loci, one mitochondrial and likely homoplasmic, and the other autosomal and recessive. © 1993 Wiley
点击下载:
PDF
(839KB)
返 回