Document Detail

Identification of autosomal recessive disease loci using out-bred nuclear families.
MedLine Citation:
PMID:  22052625     Owner:  NLM     Status:  Publisher    
Autozygosity mapping has been a powerful method for the identification of autosomal recessive disease genes. However, the approach is limited by the availability of suitable consanguineous pedigrees. While rare autosomal recessive diseases are over-represented in consanguineous families, a significant proportion of affected patients nonetheless originate in families where the parents are apparently unrelated. However, due to their relative rarity and the heterogeneity of disease alleles, it has proved difficult to use these patients to identify disease loci. Therefore, we developed "Phaser", a computer application which is able to infer the phase of SNP alleles and so haplotype entire chromosomes in small nuclear families ( Once the index case's chromosomes have been haplotyped it is then possible to deduce those of the parents and subsequently identify the parental origin of all the siblings' DNA. By combining information from a small number of nuclear families it may then be possible to identify linkage to the recessive disease locus, in both in-bred and out-bred families. We have illustrated the program's utility by using it to correctly identify both the cystic fibrosis locus (using two unrelated compound heterozygous CEPH families) and a new gene mutated in early-onset myopathy with respiratory distress and dysphagia locus in a single consanguineous pedigree. ©2011 Wiley Periodicals, Inc.
Ian M Carr; Christine P Diggle; Nader Touqan; Rashida Anwar; Eamonn G Sheridan; David T Bonthron; Colin A Johnson; Manir Ali; Alexander F Markham
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-11-3
Journal Detail:
Title:  Human mutation     Volume:  -     ISSN:  1098-1004     ISO Abbreviation:  -     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-11-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2011 Wiley Periodicals, Inc.
School of Medicine, University of Leeds, Leeds, United Kingdom.
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