Biomedical subjects
Publications and source records attributed to J S Tay.
The frequency of deletional alpha-thalassaemia in a Javanese population sample (n = 103) was investigated at three restriction sites of the alpha-globin gene (BamHI, BglII and RsaI). The overall gene frequency of alpha+ deletional thalassaemia was found to be very low (0.03). Leftward (-alpha 4.2) and rightward (-alpha 3.7) deletions and triplicated genes were present in equal frequency (0.015 and 0.005, respectively).
The effect of a DNA polymorphism (MspI) of the apolipoprotein (apo) A-II gene on serum lipid and apo levels was studied in a group of 125 healthy Chinese of both sexes. The frequency of the 3.7-kb rarer allele (M2) was found to be significantly higher in the Chinese (0.30) than in Caucasians (0.16; p < 0.025). The distribution of apo A-II genotypes was in Hardy-Weinberg equilibrium in the Chinese population. The presence of a polymorphic site (MspI) within an Alu sequence at the 3' end of the gene, the 3.0 kb (M1) allele, was associated with significantly higher levels of serum apo A-I and A-II (p < 0.05 and < 0.01, respectively). Serum high-density Lipoprotein cholesterol levels were also correspondingly higher in individuals with M1, but did not reach a significant level. Male heterozygotes of the apo A-II polymorphism had significantly higher levels of serum triglycerides compared to homozygotes (p < 0.05). Thus the MspI polymorphism of the apo A-II gene appears to be associated with altered levels of lipids and apos in the Chinese population.
Genetic polymorphisms of plasma alpha 1-acid glycoprotein (oro-somucoid, ORM), alpha 2-HS-glycoprotein (A2HS) and alpha 1-B-glycoprotein (alpha 1B) were studied in a group of Parsis in Bombay, India. The frequencies of ORM1*1, ORM1*2 and ORM1*3 were found to be 0.636, 0.356 and 0.008, respectively. A2HS*1, A2HS*2 and A2HS*3 frequencies were 0.855, 0.135 and 0.010, while the frequencies of A1B*1 and A1B*2 were 0.881 and 0.119, respectively. The phenotype distribution at all three loci was at Hardy-Weinberg equilibrium. The ORM2 locus was monomorphic in the Parsis.
To evaluate the effect of leukaemia and its treatment on growth and puberty, we studied retrospectively the serial heights and pubertal development of 37 children with acute leukaemia. The age of diagnosis ranged from 10 months to 13 years, with a duration of follow-up varying from 2 years to 14 years. The SDS (Z score) which reflects the deviation of height measurements from the population mean was used to assess height change at yearly intervals. Pubertal assessment was also made using the Tanner standards. 25 (69%) children showed a falling trend in mean Z scores over a 5 year follow-up period. The difference between the mean Z scores at 0 and 5 years was statistically significant (p < 0.035). However, there was no significant correlation between age of onset of disease and duration of survival with the deviation in the Z score. 11 children did not demonstrate a fall in the Z scores. There were, however, no defined factors such as age of onset, duration of follow-up, and sex distribution which could predict growth failure. Pubertal assessment showed normal development in all children with the pubertal age group (n = 11), except for 3 boys, two of whom had received testicular irradiation.
Molecular and non-molecular techniques have been utilized for the detection and characterisation of alpha- and beta-thalassaemia genes. Non-molecular techniques example, haematological indices and haemoglobin electrophoresis allow samples to be screened rapidly without the use of radionuclides but these techniques are unable to detect mutations at the gene level. Molecular analysis of alpha- and beta-globin genes either by Southern Blotting and radionuclides or DNA amplification using the polymerase chain reaction (PCR) allows detection of specific mutations and have enabled prenatal diagnosis of the thalassaemias.
The genetic basis of human cancer is well established, although much work remains to be done to unravel the mechanisms of carcinogenesis. Multiple genetic alterations appear to the hallmark in the adult cancers. Molecular cloning and characterization of the amplified proto-oncogenes and mutated recessive oncogenes would shed light on the mechanisms involved in the initiation and progression of human cancer. New tests are likely to be available in the near future (for specific oncogenes) for the diagnosis and management of various forms of human cancer.
Four-hundred fifty-nine people, including 106 Santals, 43 Bhuiyas, 107 Sakaldipi Brahmins, 108 Chamars, and 95 Ansari Muslims, of the Giridhi district of Bihar have been tested for transferrin, group-specific component, phosphoglucomutase subtypes, and glyoxalase-I, 6-phosphogluconate dehydrogenase, and adenylate kinase types. Genetic distance estimates by both dendrogram and principal component methods for these 5 populations and the Oraons on the basis of 19 alleles at 6 polymorphic loci indicate 2 major clusters: Brahmins and Muslims, the latter of which is composed of two subclusters (Santals and Bhuiyas, and Oraons and Chamars). The Santal and Bhuiya tribes both speak Mundari, whereas the Oraons speak a Dravidian language. The Chamars, although low-caste Hindus, seem to have a non-Europoid origin, as do the Oraons.
Apolipoprotein H (APOH) (beta-2-glycoprotein I) polymorphism has been studied in 1159 Asians. The sample included 872 Chinese, 179 Asiatic Indians (Dravidian), 91 Filipinos, and 17 Malays. APOH polymorphism was determined by isoelectric focusing of sera in thin-layer polyacrylamide gels containing 3 M urea followed by immunoblotting. The frequencies of the three alleles--APOH*1, APOH*2, and APOH*3--were found to be 0.031, 0.900, and 0.069 in the Chinese; 0.061, 0.866, and 0.073 in the Dravidian Indians; 0.055, 0.923, and 0.022 in the Filipinos; and 0.088, 0.882, and 0.029 in the Malays. The phenotypic distribution was at Hardy-Weinberg equilibrium in all the populations.
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Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.
One hundred and sixty-three healthy Chinese subjects of both sexes were studied for serum paraoxonase (PON) polymorphism, and levels of lipids and apolipoproteins in order to examine effects of PON alleles on these parameters. The level of serum triglyceride was significantly higher in high activity allele (PON*B) compared with that in low activity allele (PON*A) in both sexes (P less than 0.01). The subjects with PON A had significantly higher LDL cholesterol (P less than 0.05) and lower Apo A-II and ApoB levels. The influence of serum paraoxonase on serum lipids was estimated further by Spearman's rank correlation. In the males, there was a significant negative correlation of serum paraoxonase activity with total (P less than 0.05) and LDL (P less than 0.01) cholesterol levels, and positive correlation with HDL cholesterol and Apo A-II levels (P less than 0.05). Serum paraoxonase activity had a high positive correlation with serum triglyceride levels in both sexes (P less than 0.001). Serum ApoB level had a positive correlation with the enzyme activity only in females (P less than 0.01). The allelic effect of PON on these parameters was studied by multiple regression analysis. The high activity allele (PON*B) was associated with higher serum triglyceride level (P less than 0.001) and ApoB (P less than 0.001), while it had lowering influence on total cholesterol (P less than 0.05) and LDL cholesterol (P less than 0.005) in men. The average allelic effect of PON was found to be about 22% for serum triglycerides, 11% for LDL cholesterol, 14% for Apo A-II and 19% for Apo B in the present study. This study suggests a possible significant role of serum paraoxonase alleles in the metabolism of serum lipids and apolipoproteins.
Serum paraoxonase hydrolyzes paraoxon, the principal metabolite of the insecticide parathion. Serum paraoxonase is polymorphic and controlled by two codominant alleles - PON*A and PON*B representing low and high activity, respectively. Three populations of southeast Asia comprising 194 Chinese, 159 Filipinos and 73 Dravidian Indians were investigated for serum paraoxonase polymorphism. The frequency of PON*B was found to be 0.14 in the Chinese, 0.04 in the Filipinos and 0.18 in Dravidian Indians. The distribution of the PON phenotypes was at Hardy-Weinberg equilibrium in all the three populations studied.
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Hereditary palmoplantar keratoderma (1) has been found to be associated with syndromes such as corneal defects, (2) periodontosis, carcinoma of esophagus but not so much with congenital heart disease. A case of Tylosis with pulmonary stenosis is reported. Very many hereditary disorders characterised by diffuse or focal thickening of the palms and soles have been described. Tylosis is determined by an autosomal dominant gene and presents with slight thickening of palms and soles first evident in early infancy and fully described by the sixth month. There have been no congenital anomalies associated with tylosis in the literature.
Four hundred and eighty four obese Chinese children who were defined obese by a relative weight of more than 120% of standard weight-for-height had their social status evaluated. The social class of each child was arbitrarily determined according to the father's occupation. The distribution of obese children in various social levels was compared with that of the working population in Singapore. Significantly greater proportions of children were in the upper and middle social classes compared with the general working population. Such trends may be related to the increased affluence of the society and the accompanying changes in life-styles and eating habits, and will influence measures in health education and control of childhood obesity in the future.
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Explore the source record for details and available documents.