TY - JOUR
T1 - Chinese in west Malaysia
T2 - the geography of beta thalassaemia mutations.
AU - George-Kodiseri, E.
AU - Yang, K. G.
AU - Kutlar, Ferdane
AU - Wilson, J. B.
AU - Kutlar, Abdullah
AU - Stoming, T. A.
AU - Gonzales-Redondo, J. M.
AU - Huisman, T. H.
PY - 1990/1/1
Y1 - 1990/1/1
N2 - The overseas Chinese in West Malaysia are almost exclusively from the south-eastern provinces of China-Kwangtung, Fukien, and Kwangsi. To institute a comprehensive thalassaemia control programme for this region we have characterised the beta thalassaemia mutations in 16 Chinese patients from West Malaysia: 4 beta thalassaemia mutations were seen: a) an A----G substitution in the TATA box [-28 base pairs (bp)], an A----T substitution in codon 17 [17 A----T], c) a 4 base pairs - TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)], and d) a C----T substitution at the second intervening sequence (IVS 11) position 654. Similar mutations have been described in patients from the south-eastern provinces of China. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta thalassaemia of ethnic Chinese in West Malaysia to be instituted.
AB - The overseas Chinese in West Malaysia are almost exclusively from the south-eastern provinces of China-Kwangtung, Fukien, and Kwangsi. To institute a comprehensive thalassaemia control programme for this region we have characterised the beta thalassaemia mutations in 16 Chinese patients from West Malaysia: 4 beta thalassaemia mutations were seen: a) an A----G substitution in the TATA box [-28 base pairs (bp)], an A----T substitution in codon 17 [17 A----T], c) a 4 base pairs - TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)], and d) a C----T substitution at the second intervening sequence (IVS 11) position 654. Similar mutations have been described in patients from the south-eastern provinces of China. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta thalassaemia of ethnic Chinese in West Malaysia to be instituted.
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M3 - Article
C2 - 2255937
AN - SCOPUS:0025473649
SN - 0037-5675
VL - 31
SP - 374
EP - 377
JO - Singapore Medical Journal
JF - Singapore Medical Journal
IS - 4
ER -