Three novel polymorphisms in the beta globin gene.
We report on three novel polymorphisms in and around the beta globin gene. Two of them are intronic (IVS2) polymorphisms (IVS 2 nt 200-203 (-CTTT) and IVS2 82-83 (-AG)). The third is a novel G-->C substitution at nt +1707 related to the beta globin cap site. This +1707 G-->C polymorphism was detected in 23.5% of chromosomes among 140 samples from India. It seems to be a novel but common polymorphism among Indians. There was no linkage between these novel polymorphisms and any beta thalassemia mutation.
Nadkarni
A
A
Department of Hematogenetics, Institute of Immunohaematology, Indian Council of Medical Research, Mumbai, India.
Sakaguchi
T
T
Gorakshakar
A
A
Phanasgaonkar
S
S
Colah
R
R
Mohanty
D
D
Kiyama
R
R
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005192:Family Health; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic
D005914:Globins