Document Detail

The human gamma-aminobutyric acid receptor subunit beta 3 and alpha 5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats.
MedLine Citation:
PMID:  8188218     Owner:  NLM     Status:  MEDLINE    
The gamma-aminobutyric acid (GABAA) receptor beta 3 (GABRB3) and alpha 5 (GABRA5) subunit genes have been localized to the Angelman and Prader-Willi syndrome region of chromosome 15q11-q13. GABRB3, which encompasses 250 kb, is located 100 kb proximal of GABRA5, with the two genes arranged in head-to-head transcriptional orientation. In screening 135 kb of cloned DNA within a 260-kb interval extending from within GABRB3 to the 5' end of GABRA5, 10 new (CA)n repeats have been identified. Five of these have been analyzed in detail and found to be highly polymorphic, with the polymorphism information content (PIC) ranging from 0.7 to 0.85 and with heterozygosities of 67 to 94%. In the clones from GABRB3/GABRA5 region, therefore, the frequency of (CA)n with PICs > or = 0.7 is 1 per 27 kb. Previous estimates of the density of (CA)n with PICs > or = 0.7 in the human genome have been approximately 10-fold lower. The GABRB3/GABRA5 region appears, therefore, to be enriched for highly informative (CA)n. This set of closely spaced, short tandem repeat polymorphisms will be useful in the molecular analyses of Prader-Willi and Angelman syndromes and in high-resolution studies of genetic recombination within this region.
K Glatt; D Sinnett; M Lalande
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  19     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  1994 Jan 
Date Detail:
Created Date:  1994-06-21     Completed Date:  1994-06-21     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  157-60     Citation Subset:  IM    
Genetics Division, Children's Hospital, Boston, Massachusetts.
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MeSH Terms
Angelman Syndrome / genetics
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 15*
Genetic Markers
Hybrid Cells
Molecular Sequence Data
Multigene Family*
Polymorphism, Genetic*
Prader-Willi Syndrome / genetics
Receptors, GABA / genetics*
Repetitive Sequences, Nucleic Acid
Grant Support
P01H018658-11//PHS HHS; R01NS30628-01/NS/NINDS NIH HHS
Reg. No./Substance:
0/Genetic Markers; 0/Receptors, GABA

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