title: A novel beta0-thalassemia mutation at codon 55 (-A) and a rare 17 bp deletion at codons 126-131 in the Indian population.
abstract: 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.
authors.affiliation: Gene Dynamics Group, Institute of Molecular and Cell Biology, Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki, Japan.
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
authors.forename: Takehisa
authors.initials: T
authors.lastname: Sakaguchi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takaku
authors.forename: Ajit
authors.initials: A
authors.lastname: Gorakshakar
authors.forename: Supriya
authors.initials: S
authors.lastname: Phanasgaonkar
authors.forename: Roshan B
authors.initials: RB
authors.lastname: Colah
authors.forename: Dipika
authors.initials: D
authors.lastname: Mohanty
authors.forename: Ryoiti
authors.initials: R
authors.lastname: Kiyama
mesh_terms: 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*
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D005914:Globins