Molecular XXXX in the population of Saudi Arabia.

@entity1 @entity154 @entity7279 @entity73265 @entity5357 @entity74 @entity6407 @entity13796
The @entity5357 are a heterogeneous group of @entity74 caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of @entity5357 gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of the @entity5357 . In our unit, we initiated studies to investigate the molecular @entity154 in Saudi Arabia using amplification-refractory mutation systems, dot blot analysis and restriction endonuclease analysis, and identified mutations producing beta(+)- and beta zero-thalassaemias. Twenty of the mutations encountered in the Asian, Mediterranean, Chinese and other Arab populations were investigated. The most commonly encountered mutations in Saudi @entity5357 @entity1 were IVS-I-110, IVS-II-1, @entity13796 , IVS-I-5 and IVS-I 3' end (-25), while frameshifts at @entity73265 ( @entity6407 ) and @entity7279 mutations were identified at a low frequency. These mutations account for 84.94% of the total @entity5357 mutations. The remaining 15% remain unknown. This is the first report on the type and nature of mutations in Saudi @entity5357 @entity1 . It presents frequencies of twenty mutations and emphasises the need for further detailed investigations to clarify the whole spectrum of @entity5357 mutations in the Saudi population.
