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.
upper case gee ; Glucosephosphate Dehydrogenase ; Upper case tea ; seconds ; Chinese People

We performed a study to determine whether clinical history gives a positive or negative influence on X-ray film interpretation. One hundred and nine patient's radiograms, consisting of 55 normal and 54 abnormal cases (136 abnormalities), were interpreted twice by three pairs of residents in radiology and a pair of qualified radiologists, without clinical history first and with clinical history next. The interpreters recorded diagnosis and confidence level of normal or abnormal findings on a six-point scale. Analysis of receiver operating characteristic (ROC) curves showed that knowledge of clinical history improved diagnostic accuracy. Residents, especially beginners, should be advised to obtain clinical history whenever they read radiograms.
Analysis of Variance ; Human ; *Medical Records ; Observer Variation ; Radiography/*standards ; Support, Non-U.S. Gov't