The use of intron 22 mutation in detection of haemophilia a carrier in patient's siblings
Other Title(s)
استخدام الطفرة الوراثية للانترون 22 في اكتشاف حاملي مرض الهيموفيليا "أ" من أخوات المرضى
Joint Authors
Nazif, Hiyam kamal
al-Jawhari, Sumayyah Muhammad
Umar, Najla
Adolf, Sonia
Abd Allah, Amani Salih
Source
Issue
Vol. 15, Issue 55 (30 Jun. 2012), pp.1-8, 8 p.
Publisher
Ain Shams University Faculty of Graduate Studies for Childhood
Publication Date
2012-06-30
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Hemophilia A is an X-linked recessively inherited bleeding disorder characterized by deficiency of procoagulant factor VIII (FVIII).
Genetic diagnosis is the most accurate method available for carrier detection in families at-risk.
Aim of the study: To detect intron 22 XbaI mutation in haemophilic patients and their families in order to formulate accurate molecular diagnosis of the carrier.
Methods: 88 subjects screened for intron 22 mutation using XbaI restriction enzyme with long distance PCR.
Results: Allele frequency of positive XbaI was 46%, 23%, 40% and 27% in patients, mothers, sisters and control respectively.
Expected heterozygosity was 0.35 in mothers of the patients compared with 0.39 in the female control group while 0.48 in sisters of the patients.
Observed heterozygosity was 46% in mothers compared with 54% in the control while 80% in sisters.
Conclusion: Linkage analysis with Long distance PCR of intron 22 XbaI marker is a good method for carrier detection of hemophilia A.
American Psychological Association (APA)
Nazif, Hiyam kamal& al-Jawhari, Sumayyah Muhammad& Umar, Najla& Adolf, Sonia& Abd Allah, Amani Salih. 2012. The use of intron 22 mutation in detection of haemophilia a carrier in patient's siblings. Journal of Childhood Studies،Vol. 15, no. 55, pp.1-8.
https://search.emarefa.net/detail/BIM-1002169
Modern Language Association (MLA)
Nazif, Hiyam kamal…[et al.]. The use of intron 22 mutation in detection of haemophilia a carrier in patient's siblings. Journal of Childhood Studies Vol. 15, no. 55 (Apr. / Jun. 2012), pp.1-8.
https://search.emarefa.net/detail/BIM-1002169
American Medical Association (AMA)
Nazif, Hiyam kamal& al-Jawhari, Sumayyah Muhammad& Umar, Najla& Adolf, Sonia& Abd Allah, Amani Salih. The use of intron 22 mutation in detection of haemophilia a carrier in patient's siblings. Journal of Childhood Studies. 2012. Vol. 15, no. 55, pp.1-8.
https://search.emarefa.net/detail/BIM-1002169
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 5-7
Record ID
BIM-1002169