Literature DB >> 12552562

The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.

Hossein Najmabadi1, Maryam Neishabury, Farhad Sahebjam, Kimia Kahrizi, Yousef Shafaghati, Nushin Nikzat, Maryam Jalalvand, Farahnaz Aminy, Susan Bany Hashemi, Babak Moghimi, Ali Reza Noorian, Ali Jannati, Mehrdad Mohammadi, Khalil Javan.   

Abstract

As Human Genome Project exploration continues, the necessity of having a broader spectrum of genomic DNA material from different nationalities to study various aspects of hereditary disease becomes more obvious. The existence of high genetic polymorphism within and between different communities in the world makes it necessary for the gene hunters to investigate many different populations. Iran, a large country with close to 66 million people, is a land of different nationalities, tribes, and religions that offers a highly heterogeneous gene pool to the genetics researcher. The purity of many different races in this country has been highly conserved by geographical borders and by an ancient culture that has always encouraged intrafamilial marriages. All these have created a population that is remarkably heterogeneous yet high in consanguinity rate. During the last five years of investigation we have established a DNA bank, the Iranian Human Mutation Gene Bank (www.IHMGB.com), which contains all genetic diseases studied in Iran that have the Mendelian mode of inheritance. Some of the samples are assigned to common or novel mutations and others belong to patients with clinical profiles associated with particular genetic diseases but undefined mutation. This bank stores samples of DNA from the patient and his/her first-degree relatives together with a comprehensive pedigree and clinical profile for each sample. To facilitate collaboration with other scientists around the world with the same interests, we decided to present our experimental projects online. This DNA bank provides opportunities for us to collaborate with scientists outside Iran. It offers a sample resource to research scientists around the world, at no charge, for the purpose of investigating the various aspects of genetic disorders from prenatal diagnosis to gene structure and function. It is strongly stressed that no commercial benefit is involved in the establishment of this DNA bank and the DNA samples are free of charge. However, to meet our goals and to respect ethical values, DNA samples can only be used under certain conditions stated in the User Consent Form. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID: 12552562     DOI: 10.1002/humu.10164

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  9 in total

1.  Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.

Authors:  Hannaneh Foroozani; Maryam Abiri; Shadab Salehpour; Hamideh Bagherian; Zohreh Sharifi; Mohammad Reza Alaei; Shohreh Khatami; Sara Azadmeh; Aria Setoodeh; Leyli Rejali; Farzaneh Rohani; Sirous Zeinali
Journal:  JIMD Rep       Date:  2015-05-26

2.  Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.

Authors:  Andrea Pietschmann; Parvin Mehdipour; Parvin Mehdipour; Morteza Atri; Wera Hofmann; S Said Hosseini-Asl; Siegfried Scherneck; Stefan Mundlos; Hartmut Peters
Journal:  J Cancer Res Clin Oncol       Date:  2005-05-26       Impact factor: 4.553

3.  MEFV mutations in Moroccan patients suffering from familial Mediterranean Fever.

Authors:  Latifa Belmahi; Imane Jaouad Cherkaoui; Iman Hama; Abdelaziz Sefiani
Journal:  Rheumatol Int       Date:  2011-01-19       Impact factor: 2.631

4.  Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

Authors:  Maryam Beheshtian; Nasim Izadi; Gernot Kriegshauser; Kimia Kahrizi; Elham Parsi Mehr; Maryam Rostami; Masoumeh Hosseini; Maryam Azad; Mona Montajabiniat; Ariana Kariminejad; Stefan Nemeth; Christian Oberkanins; Hossein Najmabadi
Journal:  J Genet       Date:  2016-09       Impact factor: 1.166

5.  Is urbanization scrambling the genetic structure of human populations? A case study.

Authors:  M Ashrafian-Bonab; L J Lawson Handley; F Balloux
Journal:  Heredity (Edinb)       Date:  2006-11-15       Impact factor: 3.821

6.  Strategy for mapping quantitative trait loci (QTL) by using human metapopulations.

Authors:  Igor Rudan; Zrinka Biloglav; Andrew D Carothers; Alan F Wright; Harry Campbell
Journal:  Croat Med J       Date:  2006-08       Impact factor: 1.351

7.  Detection of Rare Beta Globin Gene Mutation [+22 5UTR(G>A)] in an Infant, Despite Prenatal Screening.

Authors:  Mohammad Reza Mahdavi; Hosein Karami; Mohammad Taghi Akbari; Hosein Jalali; Payam Roshan
Journal:  Case Rep Hematol       Date:  2013-04-14

8.  A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family.

Authors:  Soudeh Ghafouri-Fard; Feyzollah Hashemi-Gorji; Vahid Reza Yassaee; Nasrin Alipour; Mohammad Miryounesi
Journal:  Int J Mol Cell Med       Date:  2016-07-03

9.  The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran.

Authors:  Mohammad Hamid; Ladan Dawoody Nejad; Gholamreza Shariati; Hamid Galehdari; Alihossein Saberi; Marziye Mohammadi-Anaei
Journal:  Iran Biomed J       Date:  2016-03-08
  9 in total

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