Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1-2
|
pubmed:dateCreated |
1992-7-16
|
pubmed:abstractText |
Genomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X-linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Börjeson-Forssman-Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X-linked disorders.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:issn |
0148-7299
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
43
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
255-60
|
pubmed:dateRevised |
2010-11-18
|
pubmed:meshHeading |
pubmed-meshheading:1351362-Base Sequence,
pubmed-meshheading:1351362-Chromosome Mapping,
pubmed-meshheading:1351362-DNA,
pubmed-meshheading:1351362-DNA Probes,
pubmed-meshheading:1351362-Genetic Linkage,
pubmed-meshheading:1351362-Genetic Markers,
pubmed-meshheading:1351362-Humans,
pubmed-meshheading:1351362-Molecular Sequence Data,
pubmed-meshheading:1351362-Polymerase Chain Reaction,
pubmed-meshheading:1351362-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1351362-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:1351362-Sex Chromosome Aberrations,
pubmed-meshheading:1351362-X Chromosome
|
pubmed:articleTitle |
Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci.
|
pubmed:affiliation |
Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, South Australia.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|