Document Detail


Use of repetitive DNA for diagnosis of chromosomal rearrangements.
MedLine Citation:
PMID:  6311727     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have used two repeated DNA fragments (3.4 and 2.1 kb) released from Y chromosome DNA by digestion with the restriction endonuclease Hae III to analyze potential Y chromosome/autosome translocations. Two female patients were studied who each had an abnormal chromosome 22 with extra quinacrine fluorescent material on the short arm. The origin of the 22p+ chromosomes was uncertain after standard cytologic examinations. Analysis of one patient's DNA with the Y-specific repeated DNA probes revealed the presence of both the 3.4 and 2.1kb Y-specific fragments. Thus, in this patient, the additional material was from the Y chromosome. Analysis of the second patient's DNA for Y-specific repeated DNA was negative, indicating that the extra chromosomal segment was not from the long arm of the Y chromosome. These two cases demonstrate that repeated DNA can distinguish between similar appearing aberrant chromosomes and may be useful in karyotypic and prenatal diagnosis.
Authors:
R D Burk; J Stamberg; K E Young; K D Smith
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human genetics     Volume:  64     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1983  
Date Detail:
Created Date:  1983-11-23     Completed Date:  1983-11-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  339-42     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Chromosome Banding
Chromosomes, Human, 21-22 and Y*
DNA / analysis
DNA Restriction Enzymes
Deoxyribonucleases, Type II Site-Specific*
Female
Humans
Karyotyping
Male
Middle Aged
Phenotype
Repetitive Sequences, Nucleic Acid*
Translocation, Genetic*
Y Chromosome*
Grant Support
ID/Acronym/Agency:
GM0747/GM/NIGMS NIH HHS; HL15026/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes; EC 3.1.21.4/Deoxyribonucleases, Type II Site-Specific; EC 3.1.21.4/GGCC-specific type II deoxyribonucleases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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