Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province

BACKGROUND AND OBJECTIVE: Hemophilia A is an X-linked recessive inherited disease that its frequency is reported as 1 in 5000 to 10000 males. Linkage analysis is widely used in related female of hemophilic family around the world. In this study, 3 intragenic polymorphism markers including G/A in int...

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Autores principales:	MB Hashemi Soteh, Z Hosseini Khah, MA Bagherian, R Mohseni, E Siami, F Valizadeh, R Zakizadeh
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2010
Materias:	hemophilia a linkage study molecular analysis carrier detection polymorphism gene markers Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/f04846d5f4c84cbb951d55daae0ea8e9
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spelling	oai:doaj.org-article:f04846d5f4c84cbb951d55daae0ea8e92021-11-10T09:00:07ZEvaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province1561-41072251-7170https://doaj.org/article/f04846d5f4c84cbb951d55daae0ea8e92010-01-01T00:00:00Zhttp://jbums.org/article-1-3376-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND AND OBJECTIVE: Hemophilia A is an X-linked recessive inherited disease that its frequency is reported as 1 in 5000 to 10000 males. Linkage analysis is widely used in related female of hemophilic family around the world. In this study, 3 intragenic polymorphism markers including G/A in intron 7, T/A polymorphism in intron 18 and C/T polymorphism in intron 19 were introduced as the most informative markers for the linkage analysis of factor eight gene. This research was designed to determine the carrier people and give knowledge to the families in risk for the birth of another affected child on those families.METHODS: In this cross-sectional study, 20 hemophiliacs A families including 30 patients and 64 family members (father, mother, sisters, aunt, and their children and other relative, who had chance to be carrier) from 5 cities of Mazandaran province were investigated. At first, family history was collected and pedigree was drawn. Five to 10 milliliter peripheral bloods were collected from each person and then DNA was extracted. Molecular study was performed using ARMS-PCR method and using three mentioned markers. At last, carrier persons were identified regarding to the inheritance of the same affected chromosome in patients and other related females in the family and comparison of linkage phase in affected person and results achieved from related females.FINDINGS: From 95 individuals who were studied in 20 families, 28 related women to the hemophilia patients were diagnosed as obligate or possible carriers. Also the usefulness of each markers applied in this study were evaluated by calculation of the coefficient of heterozygocity for each polymorphic makers and following results were achieved: G/A in intron 7 (49.4%), T/A in intron 18 (41.17%) and C/T in intron 19 (42.35%).CONCLUSION: The results showed that polymorphic markers used in this study were highly informative and suitable for carrier detection of hemophilia A.MB Hashemi Soteh,Z Hosseini KhahMA BagherianR MohseniE Siami,F ValizadehR ZakizadehBabol University of Medical Sciencesarticlehemophilia alinkage studymolecular analysiscarrier detectionpolymorphismgene markersMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 11, Iss 6, Pp 64-70 (2010)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	hemophilia a linkage study molecular analysis carrier detection polymorphism gene markers Medicine R Medicine (General) R5-920
spellingShingle	hemophilia a linkage study molecular analysis carrier detection polymorphism gene markers Medicine R Medicine (General) R5-920 MB Hashemi Soteh, Z Hosseini Khah MA Bagherian R Mohseni E Siami, F Valizadeh R Zakizadeh Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
description	BACKGROUND AND OBJECTIVE: Hemophilia A is an X-linked recessive inherited disease that its frequency is reported as 1 in 5000 to 10000 males. Linkage analysis is widely used in related female of hemophilic family around the world. In this study, 3 intragenic polymorphism markers including G/A in intron 7, T/A polymorphism in intron 18 and C/T polymorphism in intron 19 were introduced as the most informative markers for the linkage analysis of factor eight gene. This research was designed to determine the carrier people and give knowledge to the families in risk for the birth of another affected child on those families.METHODS: In this cross-sectional study, 20 hemophiliacs A families including 30 patients and 64 family members (father, mother, sisters, aunt, and their children and other relative, who had chance to be carrier) from 5 cities of Mazandaran province were investigated. At first, family history was collected and pedigree was drawn. Five to 10 milliliter peripheral bloods were collected from each person and then DNA was extracted. Molecular study was performed using ARMS-PCR method and using three mentioned markers. At last, carrier persons were identified regarding to the inheritance of the same affected chromosome in patients and other related females in the family and comparison of linkage phase in affected person and results achieved from related females.FINDINGS: From 95 individuals who were studied in 20 families, 28 related women to the hemophilia patients were diagnosed as obligate or possible carriers. Also the usefulness of each markers applied in this study were evaluated by calculation of the coefficient of heterozygocity for each polymorphic makers and following results were achieved: G/A in intron 7 (49.4%), T/A in intron 18 (41.17%) and C/T in intron 19 (42.35%).CONCLUSION: The results showed that polymorphic markers used in this study were highly informative and suitable for carrier detection of hemophilia A.
format	article
author	MB Hashemi Soteh, Z Hosseini Khah MA Bagherian R Mohseni E Siami, F Valizadeh R Zakizadeh
author_facet	MB Hashemi Soteh, Z Hosseini Khah MA Bagherian R Mohseni E Siami, F Valizadeh R Zakizadeh
author_sort	MB Hashemi Soteh,
title	Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
title_short	Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
title_full	Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
title_fullStr	Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
title_full_unstemmed	Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province
title_sort	evaluation of hemophilia a families to detect carriers using gene linkage in mazandaran province
publisher	Babol University of Medical Sciences
publishDate	2010
url	https://doaj.org/article/f04846d5f4c84cbb951d55daae0ea8e9
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Evaluation of Hemophilia A Families to Detect Carriers Using Gene Linkage in Mazandaran Province

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