Prenatal genotyping of gaucher disease in Egypt
Joint Authors
al-Jawahiri, Sumayyah
Abd al-Ghaffar, Hadir
Id, Khalid
Abd al-Wahhab, Magi
Rajab, Wail Samir
Salih, Wail Fayiq
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 14, Issue 4 (31 Oct. 2013), pp.361-365, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2013-10-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
Objective : To use chorionic villi sampling (CVS) and amniocentesis to determine the genotyping of Gaucher Disease (GD) of fetuses of pregnant mothers who had a previous child affected by GD.
Methods : The study was conducted between January 2009 and December 2012.
It included 42 pregnant women that gave informed written consent.
Thirty mothers presented early so they underwent CVS at 10–12 weeks of pregnancy while 12 mothers presented later and underwent amniocentesis at 14–16 weeks.
Strip assay for the identification of Glucocerebrosidase (GBA) gene mutations in the samples of chrorionic villi and amniotic fluid was based on polymerase chain reaction (PCR) and reverse hybridization.
Results : The age of the studied pregnant women ranged from 19 to 26 years.
Consanguinity was present in 38 cases.
Eighteen women were pregnant in affected fetuses.
The results of genotyping revealed 15 cases were homozygous L444P / L444P and one case homozygous (N370s / N370s) while two cases were heterogeneous (L444P / D409H).
Twenty-four pregnant women had carrier fetuses which were all heterozygous L444P.
Conclusion : This study highlights the findings of an extended gene mutation examination for prenatal diagnosis of Guacher Disease.
The study found out that the most common mutation was L444P / L444P.
American Psychological Association (APA)
al-Jawahiri, Sumayyah& Abd al-Ghaffar, Hadir& Id, Khalid& Abd al-Wahhab, Magi& Rajab, Wail Samir& Salih, Wail Fayiq. 2013. Prenatal genotyping of gaucher disease in Egypt. The Egyptian Journal of Medical Human Genetics،Vol. 14, no. 4, pp.361-365.
https://search.emarefa.net/detail/BIM-360661
Modern Language Association (MLA)
al-Jawahiri, Sumayyah…[et al.]. Prenatal genotyping of gaucher disease in Egypt. The Egyptian Journal of Medical Human Genetics Vol. 14, no. 4 (Oct. 2013), pp.361-365.
https://search.emarefa.net/detail/BIM-360661
American Medical Association (AMA)
al-Jawahiri, Sumayyah& Abd al-Ghaffar, Hadir& Id, Khalid& Abd al-Wahhab, Magi& Rajab, Wail Samir& Salih, Wail Fayiq. Prenatal genotyping of gaucher disease in Egypt. The Egyptian Journal of Medical Human Genetics. 2013. Vol. 14, no. 4, pp.361-365.
https://search.emarefa.net/detail/BIM-360661
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 364-365
Record ID
BIM-360661