A novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population.
A new mutation at codon 55 (-A) and a rare mutation, a 17 bp deletion at codons 126-131, that gives rise to beta0-thalassemia, were found in the Indian population by means of direct sequencing of two polymerase chain reaction products generated from a 2.3 kb DNA fragment containing the whole beta-globin gene. Each polymerase chain reaction product was sequenced on both strands in a mutation-loading format, showing all nucleotide substitutions or deletions/insertions, including mutations and polymorphisms, in the product. The entire protocol requires four sequencing reactions/gel loadings after two successive polymerase chain reactions, which simplifies the mutation search process and reduces the reading error rate.
Nadkarni
Anita
A
Gene Dynamics Group, Institute of Molecular and Cell Biology, Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki, Japan.
Sakaguchi
Takehisa
T
Takaku
Hiroshi
H
Gorakshakar
Ajit
A
Phanasgaonkar
Supriya
S
Colah
Roshan B
RB
Mohanty
Dipika
D
Kiyama
Ryoiti
R
D000328:Adult; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005914:Globins / Q000235:genetics*; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D014176:Protein Biosynthesis; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*
D003062:Codon; D018389:Codon, Nonsense; D005914:Globins