Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1991-11-21
pubmed:abstractText
To improve carrier detection and prenatal diagnosis for Duchenne and Becker muscular dystrophy families, we determined allele frequencies and measures of variation for four (dC-dA)n.(dG-dT)n loci identified within a deletion-prone region of the human dystrophin gene. The loci are highly polymorphic, with predicted heterozygosities of 71.6%-93.3%. Direct DNA sequence analysis of the (dC-dA)n.(dG-dT)n locus in intron 49 revealed an additional length polymorphism which varies by single-basepair increments, is adjacent to the dinucleotide repeat block, and enhances the polymorphic content of this marker. The four (dC-dA)n.(dG-dT)n loci are each easily amplified by PCR in two diplex reactions. The variability of allele lengths at these loci makes them ideal for carrier detection and prenatal diagnosis, often providing diagnostic information when RFLP analysis is uninformative. These markers have aided in identification of deletion mutations, exclusion of maternal cell contamination of chorionic villus samples, confirmation of paternity, and mapping of gene recombinations. The allele identification of these loci can be performed either with a radiolabel or with an automated, nonradioactive, fluorescent gel detection system.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-17248844, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-1968037, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-1970874, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-1998344, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2253937, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2316519, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2347587, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2448875, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2563634, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2573997, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2643315, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2780284, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-2916582, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-3205741, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-3328815, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-3607877, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-3748144, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-6283389, http://linkedlifedata.com/resource/pubmed/commentcorrection/1928100-6328411
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0002-9297
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
951-60
pubmed:dateRevised
2010-9-10
pubmed:meshHeading
pubmed-meshheading:1928100-Alleles, pubmed-meshheading:1928100-Base Sequence, pubmed-meshheading:1928100-Cells, Cultured, pubmed-meshheading:1928100-Dystrophin, pubmed-meshheading:1928100-Female, pubmed-meshheading:1928100-Gene Frequency, pubmed-meshheading:1928100-Genetic Markers, pubmed-meshheading:1928100-Heterozygote Detection, pubmed-meshheading:1928100-Humans, pubmed-meshheading:1928100-Male, pubmed-meshheading:1928100-Molecular Sequence Data, pubmed-meshheading:1928100-Muscular Dystrophies, pubmed-meshheading:1928100-Pedigree, pubmed-meshheading:1928100-Polydeoxyribonucleotides, pubmed-meshheading:1928100-Polymerase Chain Reaction, pubmed-meshheading:1928100-Polymorphism, Genetic, pubmed-meshheading:1928100-Pregnancy, pubmed-meshheading:1928100-Prenatal Diagnosis, pubmed-meshheading:1928100-Repetitive Sequences, Nucleic Acid
pubmed:year
1991
pubmed:articleTitle
Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.
pubmed:affiliation
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't