PMID- 15008261
OWN - NLM
STAT- MEDLINE
DCOM- 20041007
LR  - 20190917
IS  - 0363-0269 (Print)
IS  - 0363-0269 (Linking)
VI  - 28
IP  - 1
DP  - 2004 Feb
TI  - Detection of rare beta-thalassemia mutations by denaturing gradient gel 
      electrophoresis among Indians.
PG  - 15-24
AB  - We report four rare beta-thalassemia (thal) mutations, viz. AATAAA --> AACAAA 
      [polyadenylation (poly A) site mutation]. IVS-II-745 (C --> G), codon 121 (G --> 
      T) and IVS-II-1 (G --> A), detected by denaturing gradient gel electrophoresis 
      (DGGE) among Indians. Of these, the poly A site mutation has been found in 
      combination with deletional delta(beta)-thal in one case, and with the IVS-1-5 (G 
      --> C) mutation in another. Two DGGE patterns, corresponding to the same IVS-II-1 
      (G --> A) mutation, were seen in one family. Framework (FW) analyses in family 
      studies have shown that the poly A site mutation is associated with FW-1, while 
      both the codon 121 (G --> T) and IVS-II-1 (G --> A) mutations are associated with 
      FW-2. Denaturing gradient gel electrophoresis facilitates the screening of rare 
      beta-thal mutations in the diverse Indian population with its many ethnic groups, 
      covering a vast geographic territory.
FAU - Gorakshakar, Ajit C
AU  - Gorakshakar AC
AD  - Indian Council of Medical Research (ICMR), Institute of Immunohaematology, Parel, 
      Mumbai, India.
FAU - Phanasgaonkar, Supriya P
AU  - Phanasgaonkar SP
FAU - Nadkarni, Anita H
AU  - Nadkarni AH
FAU - Colah, Roshan B
AU  - Colah RB
FAU - Mohanty, Dipika
AU  - Mohanty D
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
SB  - IM
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - DNA Mutational Analysis
MH  - Electrophoresis, Polyacrylamide Gel
MH  - Female
MH  - Humans
MH  - India
MH  - Male
MH  - *Point Mutation
MH  - RNA 3' Polyadenylation Signals/*genetics
MH  - beta-Thalassemia/*genetics
EDAT- 2004/03/11 05:00
MHDA- 2004/10/08 09:00
CRDT- 2004/03/11 05:00
PHST- 2004/03/11 05:00 [pubmed]
PHST- 2004/10/08 09:00 [medline]
PHST- 2004/03/11 05:00 [entrez]
AID - 10.1081/hem-120028883 [doi]
PST - ppublish
SO  - Hemoglobin. 2004 Feb;28(1):15-24. doi: 10.1081/hem-120028883.