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PMID: 2881949 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

The Journal of clinical investigation ·Vol. 79 ·No. 4 ·1987-04-00 ·Pages 1204-9

Poon MC, Chui DH, Patterson M, Starozik DM, Dimnik LS, Hoar DI

Abstract

We have used two strategies to study 14 hemophilia B families from 11 kindreds for possible carrier detection and prenatal diagnosis. First, we sequentially used the Factor IX probes (sequentially with restriction enzymes Taq I, Xmn I, and Dde I), and the linked probes p45h (Taq I), p45d (Pst I), and 52a (Taq I) for restriction fragment length polymorphism (RFLP) analysis. Second, we searched for useful variant Taq I digestion fragments using the Factor IX complementary DNA. Two separate new Taq I variants in exon VIII were identified. Using both strategies, 11 of 14 families (from 9 of 11 kindreds) were informative for further studies. In five kindreds studied in detail, the carrier status of all 11 at risk females was determined and prenatal diagnosis could be offered to the offsprings of each of the six carriers identified. Thus, in this study, we have identified a higher proportion of informative families than has previously been reported.

MeSH Terms
DNA/analysis DNA Restriction Enzymes/metabolism Deoxyribonucleases, Type II Site-Specific Female Genetic Carrier Screening Hemophilia B/genetics Humans Male Pedigree Polymorphism, Restriction Fragment Length
Chemicals
DNA DNA Restriction Enzymes endodeoxyribonuclease DdeI endodeoxyribonuclease XmnI CTGCAG-specific type II deoxyribonucleases Deoxyribonucleases, Type II Site-Specific TCGA-specific type II deoxyribonucleases
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Poon M C
Chui D H
Patterson M
Starozik D M
Dimnik L S
Hoar D I
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31 references, click to expand
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
DOI
10.1172/JCI112938
Published
1987-04-00
Pages
1204-9
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC424311
Subset
IM
External Links
PubMed source DOI: 10.1172/JCI112938 PMC Full Text View journal details
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