Kamla-Raj 2003                                                                    Int J Hum Genet, 3(4): 221-224 (2003)



Distribution of b Thalassemia Mutations and Its Correlation with

a Thalassemia in Gujarati Families


Nitu Nigam1, Nirupama Munshi 2, Manish Patel 2  and Alka Soni 2


1. Department of Genetics, Sanjay Gandhi Post Graduate Institute of Medical

Sciences, Lucknow 226014, Uttar Pardesh, India

2. Kashiben Gordhandas Patel Children Hospital and Jajodia Research Institue, Karelibaug, Baroda 390018, Gujrat, India


Key words b-thalassemia; genetic defects; Gujarati population; a-thalassemia


ABSTRACT We have characterized b-thalassemia mutations in 36 unrelated Gujarat (72 chromosome) families with at least one index case of severe anemia. The predominant mutations found were IVSI-5 (G-C) 61.1%, IVS I-1 (2.7%), 619bp (13.8%), CD8/9 (5.5%) and CD41/42 (8.3%). Among the less common mutations, only CD 15 (C-T) was found with a frequency of (1.3%). However, one allele of each was found for bE (CD 26 G-A) and bD (CD121 G-C) mutations. Using the amplification refractory mutation system (ARMS) technique we were able to identify mutations successfully in all the cases. We have also characterized common a-thalassemia mutations among the b-thalassemia subjects by using Gap PCR.  Out of 35 thalassemia major patients 5 showed -a3.7/aa genotype (13.8%) and 3 had -a3.7/-a3.7 (8.3%). These findings should prove useful for suggesting the first trimester prenatal diagnosis program based on direct mutation detection.


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