Document Detail


Assignment of the Nance-Horan syndrome to the distal short arm of the X chromosome.
MedLine Citation:
PMID:  1979306     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
There are three types of X-linked cataracts recorded in Mendelian Inheritance in Man (McKusick 1988): congenital total, with posterior sutural opacities in heterozygotes; congenital, with microcornea or slight microphthalmia; and the cataract-dental syndrome or Nance-Horan (NH) syndrome. To identify a DNA marker close to the gene responsible for the NH syndrome, linkage analysis on 36 members in a three-generation pedigree including seven affected males and nine carrier females was performed using 31 DNA markers. A LOD score of 1.662 at theta = 0.16 was obtained with probe 782 from locus DXS85 on Xp22.2-p22.3. Negative LOD scores were found at six loci on the short arm, one distal to DXS85, five proximal, and six probes spanning the long arm were highly negative. These results make the assignment of the locus for NH to the distal end of the short arm of the X chromosome likely.
Authors:
D Zhu; D M Alcorn; S E Antonarakis; L S Levin; P C Huang; T N Mitchell; A C Warren; I H Maumenee
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  86     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1990 Nov 
Date Detail:
Created Date:  1991-01-23     Completed Date:  1991-01-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  54-8     Citation Subset:  IM    
Affiliation:
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Baltimore, MD 21205.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Cataract / congenital,  genetics*
Female
Genetic Markers
Heterozygote
Humans
Linkage (Genetics)*
Male
Pedigree
Polymorphism, Restriction Fragment Length
Restriction Mapping
Syndrome
Tooth Abnormalities / genetics*
X Chromosome*
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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