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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
The use of DNA markers for carrier detection and prenatal diagnosis of haemophilia A in Egyptian families
Haemophilia, Volume 14, No. 5, Year 2008
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Description
Haemophilia A is the most common inherited X-linked recessive bleeding disorder. The aim was to investigate the usefulness of two DNA markers in linkage analysis, one intragenic BCL1 affecting restriction site in intron 18, and is detected as restriction fragment length polymorphism (RFLP), and one extragenic variable number of tandem repeat (VNTR) locus DXS52 (St14) to formulate an informative and accurate carrier detection and prenatal diagnosis. The study included 46 families with at least one child affected with haemophilia A, and 30 unrelated normal females as control group. Polymerase chain reaction (PCR) and restriction enzyme analysis were used to study the polymorphism in BCL1, and long-distance PCR for detection of VNTR (ST14) alleles. The incidence of BCL1 (+) allele was 74%, 72% and 60% in patients, mothers and control group, respectively. Expected heterozygosity for BCL1 was 40% in mothers of affected cases compared with 48% in the female control group. However, observed heterozygosity was found to be 48% in the mothers of affected cases, compared with 60% in the control group. Thus, 48% of the studied families are informative for this marker alone. Nine different alleles of VNTR (St14) were observed in mothers and six alleles in affected cases and six in the control group. The most prevalent alleles were 1300bp (45.5% and 34%) and 700bp (13.6% and 20%) in patients and their mothers, respectively. Observed heterozygosity in mothers was 41% compared with 43.3% in controls. The combined use of both BCL1 and St14 markers raised the informative rate to 63.6%. Carrier detection and prenatal diagnosis is possible in haemophilia A families using both DNA markers. We suggest screening haemophilic families first for BCL1 polymorphism followed by analysis of St14 locus. © 2008 The Authors Journal compilation © 2008 Blackwell Publishing Ltd.
Authors & Co-Authors
Hussein, Ibtessam Ramzi
Egypt, Giza
National Research Centre
El-Beshlawy, Amal M.
Egypt, Giza
Cairo University
Salem, Ahmed M.H.
Egypt, Cairo
College of Science
Mosaad, R. M.
Egypt, Giza
National Research Centre
Zaghloul, N.
Egypt, Giza
Cairo University
Ragab, Lamis A.
Egypt, Giza
Cairo University
Kayed, Hesham F.
Egypt, Giza
National Research Centre
Gaber, Khaled R.
Egypt, Giza
National Research Centre
El-ekiabi, M.
Egypt, Giza
Shabrawishi Hospital
Statistics
Citations: 12
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.1111/j.1365-2516.2008.01779.x
ISSN:
13518216
e-ISSN:
13652516
Research Areas
Genetics And Genomics
Maternal And Child Health
Study Design
Randomised Control Trial
Cohort Study
Participants Gender
Female