Document Detail

Simple repeat sequences on the human Y chromosome are equally polymorphic as their autosomal counterparts.
MedLine Citation:
PMID:  1618488     Owner:  NLM     Status:  MEDLINE    
The human genome contains a large number of interspersed simple repeat sequences that are variable in length and can therefore serve as highly informative, polymorphic markers. Typing procedures include conventional multilocus and single locus probing, and polymerase chain reaction aided analysis. We have identified simple sequences in a cosmid clone stemming from the human Y chromosome and consisting of (gata)n repeats. We have compared these with two equivalent simple repeat loci from chromosome 12. After amplifying the tandemly repeated motifs, we detected between four and eight different alleles at each of the three loci. Codominant inheritance of the alleles was established in family studies and the informativity of the simple repeat loci was determined by typing unrelated individuals. The polymorphisms are suitable for application in linkage studies, practical forensic case work, deficiency cases in paternity determination, and for studying ethnological questions. The mutational mechanisms that bring about changes in simple repeats located both on the autosomes and on the sex chromosomes, are discussed.
L Roewer; J Arnemann; N K Spurr; K H Grzeschik; J T Epplen
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  89     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1992 Jun 
Date Detail:
Created Date:  1992-07-31     Completed Date:  1992-07-31     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  389-94     Citation Subset:  IM    
Max-Planck-Institut für Psychiatrie, Martinsried, Federal Republic of Germany.
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MeSH Terms
Base Sequence
Chromosomes, Human, Pair 12*
Molecular Sequence Data
Mutation / genetics
Oligodeoxyribonucleotides / genetics
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*
Repetitive Sequences, Nucleic Acid / genetics*
Y Chromosome*
Reg. No./Substance:

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