Linkage mapping of the cystathionine β-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

Human Genetics

Volumn 90, Issue 5, 1993, Pages 566-568

  Avramopoulos, Dimitrios ^a   Cox, Tara ^b   Kraus, Jan P ^c   Chakravarti, Aravinda ^b,d   Antonarakis, Stylianos E ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF COLORADO   (United States)

^d UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTATHIONINE; SYNTHETASE;

ARTICLE; CHROMOSOME 21; DNA FLANKING REGION; DNA POLYMORPHISM; GENETIC LINKAGE; GENOTYPE; HETEROZYGOSITY; HUMAN; HUMAN CELL; NORMAL HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

BASE SEQUENCE; CHI-SQUARE DISTRIBUTION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; CYSTATHIONINE BETA-SYNTHASE; DNA, SINGLE-STRANDED; FEMALE; HUMAN; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM (GENETICS); POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; REGULATORY SEQUENCES, NUCLEIC ACID; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0027460423     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00217460     Document Type: Article

References (10)

1. Mouse chromosome 17
2. A genetic linkage map of the human gene
3. Cloning and screening with nanogram amounts of immunopurified messenger RNAs, cDNA cloning and chromosomal mapping of cystathionine β-synthase and the β-subunit of propionyl CoA carboxylase
4. Polymorphisms in the transcribed 3′untranslated region of eucaryotic genes
5. The gene for cystathionine beta synthase (CBS) maps to the subtelomeric region on human chromosome 21q to proximal mouse chromosome 17
6. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
7. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
8. Detecting high resolution polymorphisms in human coding loci by combining PCR and single-strand conformation polymorphism (SSCP) analysis
9. The alpha-A-crystalin and cystathionine beta-synthase genes are physically very losely linked in proximal mouse chromosome 17