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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
1995-4-20
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pubmed:abstractText |
We have used three highly polymorphic microsatellite repeats from Xq21 to type families in whom a gene for X linked deafness with perilymphatic gusher (DFN 3) was segregating. All three markers were tightly linked to the disease in its radiologically normal and abnormal forms, with a maximum lod score of 10.37 with DXS995 and 8.44 with DXS986 at zero recombination, and 14.03 with DXS1002 at theta = 0.01. In an isolated case of deafness of this type, DXS995 indicated either the first recombination observed between the marker and the disease gene or a new mutation in the proband. Southern blotting using a cosmid fragment from the candidate region has confirmed a de novo mutation by showing a deletion in the proband which is not present in his mother as judged by dosage analysis. We also describe a family with a paracentric inversion associated with a microdeletion and discuss how deletion mapping using these and other markers in the region has helped to define a candidate region for the gene.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1362559,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1397689,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1436057,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1442898,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1609803,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1675684,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1783396,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-1922747,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-2569720,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-2791656,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-2904400,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-3243543,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-3684611,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-4422075,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-7981685,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-8071966,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-8291427,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7891371-8406446
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
0022-2593
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
31
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
916-21
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7891371-Base Sequence,
pubmed-meshheading:7891371-DNA, Satellite,
pubmed-meshheading:7891371-DNA Primers,
pubmed-meshheading:7891371-Deafness,
pubmed-meshheading:7891371-Female,
pubmed-meshheading:7891371-Genetic Linkage,
pubmed-meshheading:7891371-Heterozygote Detection,
pubmed-meshheading:7891371-Humans,
pubmed-meshheading:7891371-Male,
pubmed-meshheading:7891371-Molecular Sequence Data,
pubmed-meshheading:7891371-Pedigree,
pubmed-meshheading:7891371-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:7891371-X Chromosome
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pubmed:year |
1994
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pubmed:articleTitle |
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
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pubmed:affiliation |
Unit of Clinical and Molecular Genetics, Institute of Child Health, London, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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