Profile of beta-thalassemia in eastern India and its prenatal diagnosis.
OBJECTIVE
To control the birth of thalassemic children in India.


METHODS
Mutations present in the population of eastern India and in carrier parents seeking prenatal diagnosis were detected by the PCR-based technique of ARMS (amplification refractory mutation system) or gap-PCR. To screen for maternal tissue contamination in CVS, haplotypes associated with the beta-globin gene clusters were constructed using six polymorphic restriction sites. Prenatal diagnosis was accomplished by checking presence of parental mutation in the DNA from chorionic villus sampling (CVS) collected at 8 to 10 weeks' gestation by appropriate technique.


RESULTS
Six hundred and fifty (650) unrelated beta-thalassemia chromosomes were screened for 11 common mutations to characterize the mutation distribution in this population. Starting from early 2000, 63 families from different parts of West Bengal and from surrounding areas have been offered prenatal counseling for beta-thalassemia.


CONCLUSIONS
The population of this region is conscious and willing to accept prenatal diagnosis as a means of control of thalassemia.
Bandyopadhyay
Aditi
A
Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 A.P.C. Road, Kolkata-700 009, India.
Bandyopadhyay
Sanmay
S
Basak
Jayasri
J
Mondal
Bama Charan
BC
Sarkar
Anjali Angelika
AA
Majumdar
Sunipa
S
Das
Mani Kanchan
MK
Chandra
Sharmila
S
Mukhopadhyay
Ashis
A
Sanghamita
Mamtaj
M
Ghosh
Kusagradhi
K
Dasgupta
Uma B
UB
D015193:Chorionic Villi Sampling; D004247:DNA / Q000032:analysis; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D005817:Genetic Counseling; D005865:Gestational Age; D005914:Globins / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
D005914:Globins; D004247:DNA