Document Detail


Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat.
MedLine Citation:
PMID:  1879826     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
An (AC)n repeat within the anonymous DNA sequence D21S171 was shown to be highly polymorphic in members of the 40 Centre d'Etude du Polymorphisme Humaine (CEPH) families. Ten different alleles at this marker locus were detected by electrophoresis on polyacrylamide gels of DNA amplified by the polymerase chain reaction (PCR) using primers flanking the (AC)n repeat. The observed heterozygosity was 66%. PCR amplification of DNA from somatic cell hybrids mapped D21S171 to human chromosome 21, and linkage analysis localized this marker close to the loci CD18, PFKL, D21S113 and D21S112 in chromosomal band 21q22.3. In CEPH family 12 a de novo allele has been observed in a maternally derived chromosome.
Authors:
M B Petersen; J L Weber; S A Slaugenhaupt; A E Kwitek; M G McInnis; A Chakravarti; S E Antonarakis
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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:  Human genetics     Volume:  87     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1991 Aug 
Date Detail:
Created Date:  1991-10-02     Completed Date:  1991-10-02     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  401-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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MeSH Terms
Descriptor/Qualifier:
Autoradiography
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 21*
Female
Genetic Markers
Genotype
Heterozygote
Humans
Linkage (Genetics)*
Male
Molecular Sequence Data
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid*
Grant Support
ID/Acronym/Agency:
GM33771/GM/NIGMS NIH HHS; HD00774/HD/NICHD NIH HHS; HG00248/HG/NHGRI NIH HHS
Chemical
Reg. No./Substance:
0/Genetic Markers

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


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