Document Detail

Use of short sequence repeat DNA polymorphisms after PCR amplification to detect the parental origin of the additional chromosome 21 in Down syndrome.
MedLine Citation:
PMID:  1824668     Owner:  NLM     Status:  MEDLINE    
The origin of nondisjunction in trisomy 21 has so far been studied using cytogenetic heteromorphisms and DNA polymorphisms using Southern blot analysis. Short sequence repeats have recently been described as an abundant class of DNA polymorphisms in the human genome, which can be typed using the polymerase chain reaction (PCR) amplification. We describe the usage of such markers on chromosome 21 in the study of parental origin of the additional chromosome 21 in 87 cases of Down syndrome. The polymorphisms studied were (a) two (GT)n repeats and a poly(A) tract of an Alu sequence within the HMG14 gene and (b) a (GT)n repeat of locus D21S156. The parental origin was determined in 68 cases by studying the segregation of polymorphic alleles in the nuclear families (either by scoring three different alleles in the proband or by dosage comparison of two different alleles in the proband). Our results demonstrate the usefulness of highly informative PCR markers for the study of nondisjunction in Down syndrome.
M B Petersen; A A Schinzel; F Binkert; L Tranebjaerg; M Mikkelsen; F A Collins; E P Economou; 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, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  48     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Jan 
Date Detail:
Created Date:  1991-02-05     Completed Date:  1991-02-05     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  65-71     Citation Subset:  IM    
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD.
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MeSH Terms
Chromosomes, Human, Pair 21*
DNA / genetics*
Down Syndrome / genetics*
Molecular Sequence Data
Polymerase Chain Reaction
Polymorphism, Genetic*
Repetitive Sequences, Nucleic Acid*
Reg. No./Substance:

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