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PMID: 6145983 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

A clinically useful DNA probe closely linked to haemophilia A.

Lancet (London, England) ·Vol. 2 ·No. 8393 ·1984-07-07 ·Pages 6-8

Harper K, Winter RM, Pembrey ME, Hartley D, Davies KE, Tuddenham EG

Abstract

Genetic linkage studies were done in families segregating for haemophilia A with an X-chromosome-specific probe, DX13, which has been localised to band Xq28. When DNA is digested with the restriction enzyme Bg1 II, this probe recognises a restriction fragment length polymorphism, for which 50% of females are heterozygous. No crossovers were seen between the haemophilia A locus and the DX13 locus (lod score = 5.4 at recombination fraction [theta] 0.0; 95% confidence limits of theta, 0-12%). This indicates that the DX13 probe is closely linked to the haemophilia A locus and is likely to prove useful in carrier detection and prenatal diagnosis.

MeSH Terms
Alleles Bacterial Proteins DNA/analysis DNA Restriction Enzymes Deoxyribonucleases, Type II Site-Specific Female Genetic Carrier Screening Genetic Linkage Hemophilia A/diagnosis,genetics Heterozygote Homozygote Humans Male Pedigree Polymorphism, Genetic Pregnancy Prenatal Diagnosis X Chromosome
Chemicals
Bacterial Proteins DNA DNA Restriction Enzymes BglII endonuclease Deoxyribonucleases, Type II Site-Specific
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Harper K
Winter R M
Pembrey M E
Hartley D
Davies K E
Tuddenham E G
Article Info
Journal
Lancet (London, England)
Abbr.
Lancet
ISSN
0140-6736
Published
1984-07-07
Pages
6-8
Language
English
Region
England
NLM ID
2985213R
Subset
IM
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