A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population.
We have detected, in three unrelated eastern Indian individuals, a hitherto unreported alpha zero deletion, - -KOL, in the heterozygous state, encompassing the embryonic zeta2-globin and the duplicated alpha-globin genes extending from c. 1150 bp upstream of the zeta2 globin gene to c. 960 bp downstream of the theta1 gene. Other deletions present in 120 unrelated, eastern Indian, putative alpha-thalassaemia patients are -3.7 kb (16.25%), -4.2 kb (5%) and - -SEA (3.33%).
Sarkar
Anjali Angelika
AA
Department of Biophysics Molecular Biology and Genetics, Calcutta University, Calcutta, India.
Banerjee
Subrata
S
Chandra
Sharmila
S
Ghosh
Moloy
M
Banerjee
Debashish
D
Choudhury
Manju Datta
MD
Das
Manikanchan
M
Dasgupta
Uma B
UB
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005006:Ethnicity; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India; D007223:Infant; D008297:Male; D008875:Middle Aged; D017085:alpha-Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*
D005914:Globins