Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of...

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Autores principales:	ZIDANI ABLA, YAHIA MOULOUD, EL MAHMOUDI HEJER, GOUIDER EMNA, ABDI MERIEM, OUARHLENT YAMINA, SALHI NAOUEL
Formato:	article
Lenguaje:	EN
Publicado:	MBI & UNS Solo 2018
Materias:	hemophilia b f9 gene mutations molecular analysis Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/3ea2e8629c9f4226a00a19fa9146f0e0
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spelling	oai:doaj.org-article:3ea2e8629c9f4226a00a19fa9146f0e02021-11-16T14:01:06ZMutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene1412-033X2085-472210.13057/biodiv/d190109https://doaj.org/article/3ea2e8629c9f4226a00a19fa9146f0e02018-01-01T00:00:00Zhttps://smujo.id/biodiv/article/view/2325https://doaj.org/toc/1412-033Xhttps://doaj.org/toc/2085-4722Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of the first patient.) is an X linked recessive hemorrhagic disorder caused by mutations in factor 9 (F9: is used for the gene) gene that leads to deficient or defective coagulation factor IX (FIX: is used for the protein). The variable phenotype of HB results from wide range of mutations affecting the F9 gene. Our study was aimed at molecular analysis of HB to identify the causative mutation in known patients with HB in a part of Algeria. For genotyping, polymerase chain reaction (PCR) and direct sequencing have been applied to all the essential regions of the F9 gene from 39 Algerian HB patients belonging to 13 unrelated families. We identified 10 different mutations. The identified mutations included 1 duplication and 9 substitutions. In total 9 point mutations were identified, of which 5 are located in exon 8, the hotspot region in the F9 gene. Among the 10 mutations, 2 are novel and not deposited in database sites nor described in recently published articles. The results of this study emphasize the heterogeneity of HB. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.ZIDANI ABLAYAHIA MOULOUDEL MAHMOUDI HEJERGOUIDER EMNAABDI MERIEMOUARHLENT YAMINASALHI NAOUELMBI & UNS Soloarticlehemophilia bf9 genemutationsmolecular analysisBiology (General)QH301-705.5ENBiodiversitas, Vol 19, Iss 1, Pp 52-58 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	hemophilia b f9 gene mutations molecular analysis Biology (General) QH301-705.5
spellingShingle	hemophilia b f9 gene mutations molecular analysis Biology (General) QH301-705.5 ZIDANI ABLA YAHIA MOULOUD EL MAHMOUDI HEJER GOUIDER EMNA ABDI MERIEM OUARHLENT YAMINA SALHI NAOUEL Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
description	Abla Z, Mouloud Y, Hejer El, Emna G, Abdi Meriem A, Ouarhlent Yamina O, Naouel S. 2018. Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene. Biodiversitas 19: 52-58. Hemophilia B (HB) (also known as Christmas disease; Christmas is the family name of the first patient.) is an X linked recessive hemorrhagic disorder caused by mutations in factor 9 (F9: is used for the gene) gene that leads to deficient or defective coagulation factor IX (FIX: is used for the protein). The variable phenotype of HB results from wide range of mutations affecting the F9 gene. Our study was aimed at molecular analysis of HB to identify the causative mutation in known patients with HB in a part of Algeria. For genotyping, polymerase chain reaction (PCR) and direct sequencing have been applied to all the essential regions of the F9 gene from 39 Algerian HB patients belonging to 13 unrelated families. We identified 10 different mutations. The identified mutations included 1 duplication and 9 substitutions. In total 9 point mutations were identified, of which 5 are located in exon 8, the hotspot region in the F9 gene. Among the 10 mutations, 2 are novel and not deposited in database sites nor described in recently published articles. The results of this study emphasize the heterogeneity of HB. In summary, our preliminary results will be used to build an Algerian mutation database which would facilitate genetic counseling.
format	article
author	ZIDANI ABLA YAHIA MOULOUD EL MAHMOUDI HEJER GOUIDER EMNA ABDI MERIEM OUARHLENT YAMINA SALHI NAOUEL
author_facet	ZIDANI ABLA YAHIA MOULOUD EL MAHMOUDI HEJER GOUIDER EMNA ABDI MERIEM OUARHLENT YAMINA SALHI NAOUEL
author_sort	ZIDANI ABLA
title	Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
title_short	Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
title_full	Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
title_fullStr	Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
title_full_unstemmed	Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene
title_sort	mutations causing hemophilia b in algeria: identification of two novel mutations of the factor 9 gene
publisher	MBI & UNS Solo
publishDate	2018
url	https://doaj.org/article/3ea2e8629c9f4226a00a19fa9146f0e0
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Mutations causing hemophilia B in Algeria: Identification of two novel mutations of the factor 9 gene

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