Durham E-Theses Genetic polymorphisms in selected populations in south west and south Asia Sawhney, Kanwarjit How to cite: Sawhney, Kanwarjit (1975) Genetic polymorphisms in selected populations in south west and south Asia, Durham theses, Durham University. Available at Durham E-Theses Online: http://etheses.dur.ac.uk/8228/ Use policy The full-text may be used and/or reproduced, and given to third parties in any format or medium, without prior permission or charge, for personal research or study, educational, or not-for-prot purposes provided that: • a full bibliographic reference is made to the original source • a link is made to the metadata record in Durham E-Theses • the full-text is not changed in any way The full-text must not be sold in any format or medium without the formal permission of the copyright holders. Please consult the full Durham E-Theses policy for further details. Academic Support Oce, Durham University, University Oce, Old Elvet, Durham DH1 3HP e-mail: [email protected] Tel: +44 0191 334 6107 http://etheses.dur.ac.uk GENETIC POLYMORPHISMS IN SELECTED POPULATIONS IN SOUTH WEST AND SOUTH ASIA By KANWARJIT SINGH SAWHNEY A THESIS SUBMITTED FOR THE DEGREE OF DOCTOR OF PHILOSOPHY The copyright of this thesis rests with the author No quotation from it should be published without his prior written consent and information derived from it should be acknowledged DEPARTMEN1 OF ANTHROPOLOGY UNIVERSITY OF DURHAM 1975 1 2 & ABSTRACT This thesis describes the genetic polymorphisms in selected populations m South West and South Asia. Samples from Kuwait and Iran represented the Middle East, while the Panjabis of northern India and the Nepalese illustrated the South of Asia. The methods used to detect these polymorphisms were serological and electrophoretic techniques. A total of 162 Kuwaitis were screened foi 5 blood group , 2 serum protein and 6 enzyme systems. No variants were detected in the transferrin, lactate dehydrogenase and malate dehydrogenase systems. The Kuwaitis were found to fit reasonably well into the known Arabian gene frequency distributions with regard to many genetic parameters. Two groups from Iran - the Tehran (196) and Isfahan Iranians (112) - were similarly tested for 7 blood groap , 2 serum protein and 7 enzyme systems, as well as for abnormal haemoglobin variants. The groups were found to be genetically homogeneous. Of especial interest was the finding of an appreciable frequency of the Lutheran gtue m the Isfahanis and a high frequency of the ABO gene q in the Tehranis. In the Indian Sub-continent, a series of 360 Panjabis tested for six blood groups were compared with selected populations of northern India. Phenotype and gene frequencies were found to be comparable with the northern values. Of the 313 specimens, typed for 2 serum proteins, a single individual exhibited a transferrin CB variant. The results of six enzyme systems did not reveal notab'p frequency differences between the Panjabis and the state populations of India. The Nepalese (212) examined for the forementioned systems were compared with selected populations from India and South East Asia. Their results differed from the Indians but showed resemblances with the Mongoloids. Finall}, a general comparison was made and sone of the characteristic features were discussed in the light of factors that influence then. CONTENTS Page Introduction . •. .»• ... • •. ••• ••• ••• 1 ~ lii CHAPTER 1 AN ACCOUNT OF POLYMORPHIC SYSTEMS EMPLOYED IN THE PRESENT INVESTIGATION 1 1.1 Introduction ... ... ... ... ... ••• 1 1.2 Blood Group Antigens 2 1.2.1 ABO blood group system 2 1.2.2 MNSs blood group system 4 1.2.3 Rhesus blood group system 6 1.2. n Lutheran blood group system 9 1.2.5 Kell blood group system 10 1.2.6 Duffy blood group system 11 1.2.7 Kidd blood group system 12 1.2.8 Diego blood group system 13 1.3 Serum Proteins 14 1.3.1 Haptoglobin 14 1.3.2 Transferrin 16 1.4 Red Cell Isoenzymes 17 1.4.1 Acid phosphatase 17 1.4.2 Phosphoglucomulase 18 1.4.3 Adenylate kinase 19 1.4.4 6-Phosphogluconate dehydrogenase ... 20 1.4.5 Glucose-6-phosphate dehydrogenase ... 21 1.4.6 Lactate dehydrogenase 22 1.4.7 Malate dehydrogenase 23 1.4.8 Phosphohexose isomerase 24 1.5 Human haemoglobins 26 CHAPTER 2 MATERIALS AND METHODS 29 2.1 Blood Collection 29 2.1.1 India ... ... ... ... ... ... 29 2.1. i. Iran ... ... ... ... ... ... 30 2.1.3 Nepal ... ... ... ... ... ... 30 2.1.4 Kuwait 31 2.2 Blood Group Serology 32 2.2.1 Blood in anti-coagulant E.D.T.A. ... 32 2.2.2 Blood stored an liquid nitrogen ... 32 2.2.3 Blood grouping techniques 33 2.2.4 Tile technique 33 2.2.5 Tube technique 33 2.2.6 Indirect Coombs technique 34 2.2.7 Antisera , 34 Page 2.3 Haeinolysate Preparation 36 2.4 Starch-Gel Electrophoresis 37 2.4.1 Apparatus used 37 2.4.2 Preparation of gel 37 2.4.3 Sample insertion 38 2.4.4 Slicing the gel 38 2.4.5 Electrophoretic methods 39 2.4.6 Haptoglobin and transferrin 39 2.4.7 Acid phosphatase 40 2.4.8 Fhosphoglucomutase .. 42 2.4.9 Adenylate kinase 43 2.4.10 Dehydrogenase enzymes 44 2.4.11 Phosphohexose isomerase 46 2.5 Cellulose Acetate Electrophoresis 48 2.5.1 Apparatus used 48 2.5.2 Buffets used 48 2.5.3 Procedure 49 2.5.4 Staining t 49 2.6 Zip Zone : Titan IV Citrate Electrophoresis 50 2.7 Statistical Techniques 51 2.7.1 Gene Frequencies 51 2.7.2 Chi squared test 51 2.7.3 Contingency tables . 52 CHAPTER 3 GENETIC POLYMORPHISMS IN THE KUWAITI ARABS ... 55 3.1 Introduction ... ... ••• ••• • •• ••• 55 3.1.1 Geographical setting 55 3.1.2 Historical review 56 3.2 Blood Group Antigens 58 3.3 Discussion ... ... ... ... ... ••• 59 3.3.1 ABO blood group system 59 3.3.2 MNS blood group sysLem 60 3.3.3 Rh blood group system 61 3.3.4 Other blood group systems 63 3.4 Serum Proteins 64 3.5 Discussion 65 3.5.1 Haptoglobin 65 3.6 Red cell isoenzymes 66 3.7 Discussion ... ... ... ••• 67 3.7.1 Acid phosphatase 67 3.7.2 Phosphoglucomutase locus 1 68 3.7.3 Adenylate kinase 68 3.7.4 6-Phosphogluconale dehydrogenase ... 69 3.8 Conclusion 70 Page CHAPTER 4 GENETIC POLYMORPHISMS IN IRAN 71 4.1 Introduction 71 4.1.1 Geographical setting 71 4.1.2 Historical review ... ... 72 4.1.3 Ethnic groups in Iran 73 4.1.4 Genetic studies in Iran 75 4.2 Blood Group Antigens 77 4.3 Discussion 79 4.3.1 ABO blood group system 79 4.3.2 MNSs blood group system 80 4.3.3 Rh blood group system 81 4.3.4 Other blood group systems 82 4.4 Serum Proteins 83 4.5 Discussion 84 4.5.1 Haptoglobin 84 4.5.2 Transferrin 84 4.6 Red Cell Isoenzymes 86 4.7 Discussion ... ... •« ••• 88 4.7.1 Acid phosphatase 88 4.7.2 Phosphoglucomutase locus 1 89 4.7.3 Adenylate kinase ... 89 4.7.4 6-Phosphogluconate dehydrogenase ... 90 4.7.5 Phosphohexose isomerase 91 4.8 Discussion 92 4.8.1 Haemoglobin 92 4.9 Conclusion 93 CHAPTER 5 GENETIC POLYMORPHISMS IN THE PANJABIS OF NORTHERN INDIA 95 5.1 Introduction 95 5.1.1 Historical review 95 5.1.2 Racial types 97 5.1.3 Development of genetic studies in India 99 5.2 Analysis of Data 102 5.3 Blood Group Antigens 102 5.4 Discussion 104 5.4.1 ABO blood group system 104 5.4.2 MNSs blood group system 105 5.4.3 Rh blood group system 106 5.4.4 Kell blood group system 107 5.4.5 Duffy blood group system 108 5.4.6 Kidd blood group system 109 Page 5.5 Serum Proteins 110 5.6 Discussion Ill 5.6.1 Haptoglobin Ill 5.6.2 Transferrin 112 5.7 Red Cell Isoenzymes 113 5.8 Discussion 115 5.8.1 Acid phosphatase 115 5.8.2 Phosphoglucomutase locus 1 ... ... 116 5.8.3 Adenylate kinase 117 5.8.4 6-Phosphogluconate dehydrogenase 117 5.8.5 Glucose-6-phosphatate dehydrogenase ... 118 5.8.6 Lactate dehydrogenase 119 5.8.7 Malate dehydrogenase 119 5.9 Discussion 120 5.9.1 Haemoglobin 120 5.10 Conclusion ... ... ... • 121 CHAPTER 6 GENETIC POLYMORPHISMS IN THE NEPALESE 124 6.1 Introduction 124 6.1.1 Geography - history and people 124 6.2 Blood Group Antigens 127 6.3 Discussion 129 6.3.1 ABO blood group systtm 129 6.3.2 MNSs blood group system 130 6.3.2 Rh blood group system 130 6.3.^ Other blood group systems 131 6.4 Serum Proteins 133 6.5 Discussion 134 6.5.1 Haptoglobin 134 6.6 Red Cell Isoenzymes 135 6.7 Discussion 136 6.7.1 Acid phosphatase 136 6.7.2 Phosphoglucomutase locus 1 136 6.7.3 Adenylate kinase 137 6.7.4 6-Phosphogluconate dehydrogenase 138 6.8 Conclusion ... ... ... ••• ••• ••• 139 CHAPTER 7 GENERAL COMPARISON AND PROPOSALS FOR FURTHER RESEARCH 140 ACKNOWLEDGEMENTS 148 REFERENCES 150 TABLES following 179 LIST OF FIGURES Fig. 1.5 Alternative Rhesus Chromosomes Fig. 1.10 Diagram showing the common Haptoglobin phenotypes Fig. 1.11 Diagram showing electrophoretic variants of Transferrin Fig. 1.12 Diagram showing electrophoretic variants of Acid Phosphatase Fig. 1.13 Diagram showing electrophoretic variants of Phosphoglucomutase Fig. 1.14 Diagram showing electrophoretic variants of Adenylate Kinase Fig. 1.15 Diagram showing electrophoretic variants of red cell 6 Phosphogluconate Dehydrogenase Fig.