S.M.S. Chahal

The Distribution of A1A2BO and RH(D) Blood Groups in the Buksa - A Primitive Tribe of Uttarakhand, North India

Abstract The present paper reports original blood grouping data on the A1A2BO and RH(D) blood groups in the Buksa – a little known primitive tribal population of India inhabiting districts of Dehradun, Udham Singh Nagar and Nainital in Uttarakhand state located in the Central Himalayas in North India. In the three regional Buksa samples studied here the incidence of the A1 + A2 blood groups was found to be consistently higher than that of B blood group. As for the allele frequencies, compared to ABO*B, ABO*A1 frequency was noted higher in all the three Buksa groups. Infrequent allele ABO*A2 was found lacking in the sample tested from Udham Singh Nagar district but was present in the Buksa of both Dehradun and Nainital districts, albeit in low proportions. As for the RH(D) blood groups in the present Buksa material, the incidence of the RH(D)– phenotype was found very low indeed (range 1.05 - 1.83%) and RH*d allele frequency was also noted in a rather low range (0.102 - 0.136). Thus, the present serological investigation has helped in genetically characterizing the Buksa tribe inhabiting three different districts of Uttarakhand.

A Genetic Study of Four Population Groups of Uttara Kannada District of Karnataka

Abstract Four population groups, namely, Halakkis, Siddis, Gonds and Havyak Brahmins of Uttara Kannada district of Karnataka state of South India, have been studied for six serological, and red cell enzyme markers to find out genetic affinities of these population groups. In the ADA system, only Siddis showed the fast variant allele ADA*V with a frequency of 1.4 percent. To the best of the authors’ knowledge, this variant has not been reported from the populations of southern India. In another red cell enzyme system PGM2, we found Atkinson variant among Siddis with a frequency of 4.8 percent. It is African specific variant and thus, its presence in Siddis lends support to their African ancestry. The level of average heterozygosities was found to be high for all groups. The genetic distance analysis does not reveal any significant differentiation. The average gene diversity (HT) is 33.13 % and the coefficient of gene differentiation 0.032, indicating that a small contribution to the total variability comes from the inter population variation. Intensive studies with high resolution DNA markers among these populations are likely to provide meaningful insight into the population structure and migration history, and are more suitable to understand the role of evolutionary forces in genetic divergence.

A Study of Erythrocyte Enzyme Polymorphisms Among People of Kulu District, Himachal Pradesh, India

Abstract To help complete the genetic map of north Indian hill state of Himachal Pradesh, data on various polymorphic redcell enzyme systems are presented among people inhabiting its central district of Kulu. Blood samples from three main endogamouscaste populations of the area viz., the Brahmin (n=114), Rajput (n=234) and Koli (n=101) were collected randomly from unrelatedsubjects. Haemolysates were typed for a battery of seven erythrocyte enzyme polymorphisms viz., ADA, AK1, ESD, PGM1,ACP1, GLO1 and GPI using standard electrophoretic techniques. Results showed that there were appreciable differences amongthe present castes in the distribution of the first three polymorphic enzymes (ADA, AK1, ESD) while no significant heterogeneitywas discernible in the next three (PGM1, ACP1, GLO1); some GPI variants have been reported for the first time from the state.The Rajput as well as the Koli groups studied here from Kulu district showed similarities with their respective counterpartsinhabiting the neighbouring district of Kinnaur. This suggests possible gene flow between these two contiguous districts of Himachal Pradesh.

Haemoglobin Variants in North Indian Populations

Abstract Original data are presented on haemoglobin variants among 96 regional endogamous tribal and non-tribal population groups of North India inhabiting four states of Himachal Pradesh, Uttaranchal, Punjab and Haryana. For this work a total of 13,518 haemolysates were screened in conjunction with routine typing of the red cell enzyme glyoxalase I (GLO I ) in several different biochemical genetics investigations carried out by our laboratory over the last almost two decades. As for the incidence of haemoglobin variants (HB AV ) it was found to be variable – from 0.7% in Himachal Pradesh and 0.9% in Uttaranchal to 1% in Punjab and 1.1% in Haryana, suggesting a South- North decreasing cline. The overall HB AV incidence for people of North India was recorded 0.9%. An interesting finding of the present study was the discovery of very high frequency of haemoglobin variants, in polymorphic proportions (4.5 – 9.5%) in two tribal groups of Uttaranchal viz., the Tharu and Bhoksa. Importance of haemoglobin as a useful genetic marker in Indian context has been emphasized.

A Study of Red Cell Genetic Markers in Pulmonary Tuberculosis

Abstract The distribution of various red cell genetic markers including 2 blood groups (A1A2BO, RhD), 7 red cell enzymes (ADA, AK1, EsD, PGM1, GLO1, ACP1, GPI) and haemoglobin (Hb) in patients suffering from pulmonary tuberculosis and controls is reported. Results showed that barring ADA system, the differences between the patient and control series were statistically non-significant, suggesting little association between any of these genetic markers and the disease.

A Study of Red Cell Genetic Markers in Myopia

Abstract Two blood groups (A1A2BO, RhD), 7 red cell enzyme polymorphisms (ADA, AK1, ESD, PGM1, GLO1, ACP1, GPI) and haemoglobin (Hb) types were investigated in patients suffering from myopia alongwith a control sample. The present results did not show any statistically significant differences between the patient and control series in the distribution of these genetic markers.

Enzyme Variation Among the Muslim Community of Punjab

Abstract To characterize genetically the Muslim population of Punjab, a north–west Indian state, a biochemical genetics investigation using red cell enzyme markers was planned. For this, blood samples from a total of 992 Muslim subjects, belonging to the Sunni (803) and Shia (189) endogamous sects inhabiting Malerkotla town were collected. Haemolysates were analysed for the phenotypes of seven different polymorphic red cell enzymes viz., Acid Phosphatase locus 1, Phosphoglucomutase locus 1, Adenylate Kinase locus 1, Adenosine Deaminase, Phosphohexose Isomerase, Esterase D and Glyoxalase locus 1, following standard electrophoretic techniques. The results of the present study demonstrate that there were no significant genetic differences between the Sunni and Shia Muslim populations of Malerkotla and their genetic constitutions were similar. Compared with their counterparts reported from various other states of India, the two Muslim groups studied here from Punjab were found to be genetically homogeneous with most of them.