Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.

Othman Ainoon, Nem Yun Boo, Yuang Hong Yu, Soon Keng Cheong, Noor Hamidah Hussin, Jee Hiang Lim

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.

Original languageEnglish
Pages (from-to)89-98
Number of pages10
JournalThe Malaysian journal of pathology
Volume26
Issue number2
Publication statusPublished - 2004

Fingerprint

Glucosephosphate Dehydrogenase Deficiency
Glucosephosphate Dehydrogenase
Newborn Infant
Neonatal Jaundice
Hyperbilirubinemia
Phototherapy
Malaysia
Bilirubin
Mutation
Incidence
Serum
Fetal Blood
DNA Sequence Analysis
Alleles
Polymerase Chain Reaction
DNA
Enzymes

Cite this

Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates. / Ainoon, Othman; Boo, Nem Yun; Yu, Yuang Hong; Cheong, Soon Keng; Hussin, Noor Hamidah; Lim, Jee Hiang.

In: The Malaysian journal of pathology, Vol. 26, No. 2, 2004, p. 89-98.

Research output: Contribution to journalArticle

Ainoon, Othman ; Boo, Nem Yun ; Yu, Yuang Hong ; Cheong, Soon Keng ; Hussin, Noor Hamidah ; Lim, Jee Hiang. / Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates. In: The Malaysian journal of pathology. 2004 ; Vol. 26, No. 2. pp. 89-98.
@article{2dc3148d8f964bf8a304919df3b74dda,
title = "Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.",
abstract = "We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3{\%}) and Kaiping 1388 G>A (39.4{\%}) followed by G6PD Gaohe 592 G>A (7.0{\%}), Chinese-5 1024 C>T, Nankang 517 T>C (1.5{\%}), Mahidol 487 G>A (1.6{\%}), Chatham 1003 G>T (0.8{\%}), Union 1360 C>T (0.8{\%}), Viangchan 871 G>A (0.8{\%}) and Quing Yang 392 G>T (0.8{\%}). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7{\%} developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8{\%}) than G6PD Canton (22{\%}) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.",
author = "Othman Ainoon and Boo, {Nem Yun} and Yu, {Yuang Hong} and Cheong, {Soon Keng} and Hussin, {Noor Hamidah} and Lim, {Jee Hiang}",
year = "2004",
language = "English",
volume = "26",
pages = "89--98",
journal = "Malaysian Journal of Pathology",
issn = "0126-8635",
publisher = "Malaysian Society of Pathologists",
number = "2",

}

TY - JOUR

T1 - Complete molecular characterisation of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a group of Malaysian Chinese neonates.

AU - Ainoon, Othman

AU - Boo, Nem Yun

AU - Yu, Yuang Hong

AU - Cheong, Soon Keng

AU - Hussin, Noor Hamidah

AU - Lim, Jee Hiang

PY - 2004

Y1 - 2004

N2 - We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.

AB - We performed DNA analysis on cord blood samples of 128 Chinese male neonates diagnosed as G6PD deficiency in Hospital Universiti Kebangsaan Malaysia by a combination PCR-restriction enzyme digest technique, Single Stranded Conformation Polymorphism analysis and DNA sequencing. We found 10 different G6PD-deficient mutations exist. The two commonest alleles were G6PD Canton 1376 G>T (42.3%) and Kaiping 1388 G>A (39.4%) followed by G6PD Gaohe 592 G>A (7.0%), Chinese-5 1024 C>T, Nankang 517 T>C (1.5%), Mahidol 487 G>A (1.6%), Chatham 1003 G>T (0.8%), Union 1360 C>T (0.8%), Viangchan 871 G>A (0.8%) and Quing Yang 392 G>T (0.8%). Sixty eight percent (88/125) neonates in this study had neonatal jaundice and 29.7% developed hyperbilirubinemia >250 micromol/l. The incidence of hyperbilirubinemia >250 micromol/l was higher in G6PD Kaiping (43.8%) than G6PD Canton (22%) (p< 0.05). There was no significant difference in the incidence of neonatal jaundice, mean serum bilirubin, mean age for peak serum bilirubin, percentage of babies requiring phototherapy and mean duration of phototherapy between the two major variants. None of the 88 neonates required exchange transfusion. In conclusion we have completely characterized the molecular defects of a group of Chinese G6PD deficiency in Malaysia. The mutation distribution reflects the original genetic pool and limited ethnic admixture with indigenous Malays.

UR - http://www.scopus.com/inward/record.url?scp=33644683844&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33644683844&partnerID=8YFLogxK

M3 - Article

C2 - 16329560

AN - SCOPUS:33644683844

VL - 26

SP - 89

EP - 98

JO - Malaysian Journal of Pathology

JF - Malaysian Journal of Pathology

SN - 0126-8635

IS - 2

ER -