The Cradle of the Δf508 Mutation
نویسندگان
چکیده
Cystic fibrosis (CF) is the most common autosomal recessive disorder caused due to mutation/s in the CFTR gene. The most common mutation in CFTR worldwide is ΔF508 and cystic fibrosis genetic analysis consortium revealed that this mutation is responsible for approximately 66% of all CF chromosomes in the world. Studies looking at the DNA polymorphic haplotypes created by CF linked markers suggest that ΔF508 has a single origin as this mutation has been found associated exclusively with one marker haplotype. Despite a high prevalence of this mutation in CF patients in northern parts of Europe, findings suggest that this mutation was not spread by Europeans but by a group that is speculated to have originated in the Middle East or a more eastern region in Asia (most likely subcontinent). Over here we have given a brief introduction to cystic fibrosis and classification of CFTR mutations and have further elaborated on the crucial issue about the spread of the ΔF508 mutation. We have reviewed findings that give clues about the origin of this mutation from the Baluch ethnicity residing in Pakistan.
منابع مشابه
Screening of two closed mutations in CFTR gene of Iranian infertile men with non-obstructive azoospermia
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