hla-a, -b, -cw, -dqb1 and -drb1 allele frequencies in a kalash population from pakistan

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HLA-A, -B, -Cw, -DQB1 and -DRB1 Allele Frequencies in a Kalash Population from Pakistan A. Mohyuddin*, S. Khaliq, Q. Ayub and S.Q. Mehdi Biomedical and Genetic Engineering Laboratories, Islamabad, Pakistan E-mail: *[email protected] This population from northern Pakistan, Latitude 35–37N Lon- gitude 71–72E consisted of 69 Caucasian individuals. The indi- viduals were drawn from a rural environment where the grand- parents had also lived and alleles were determined using sequence specific primers. The Kalash have been isolated for centuries in the Hindu Kush mountain ranges of northern Pa- kistan and are now confined to three valleys (Bumburet, Rambur and Birir) in the Chitral District of the North West Frontier Province. The Kalash are polytheistic and their cultural tradi- tions have long excited the interest of anthropologists. Their language, Kalasha, belongs to the Dardic group of Indo-Euro- pean languages. Oral traditions ascribe their origins to a myth- ical place called “Tsiam”, which some claim refers to Syria. Various scholars have attributed their origins to Kurds, Slavs or the remnants of Alexander’s army. The population currently in residence in Pakistan are considered to be migrants from Kaf- iristan, also known as Nuristan, in Afghanistan. Current census figures indicate that there are only 3,000 – 6,000 Kalash indi- viduals left in Pakistan. Genetic analysis demonstrates that a sizable amount of their genetic makeup is unique and different from the Greek and neighboring northern Pakistani populations. The Kalash population may represent the genetic pool of ances- tral Eurasian populations of Central Asia or early Indo-European nomadic pastoral tribes that became sequestered in the valleys of the Hindu Kush Mountains. The results have previously been published in Tissue Antigens 59, 492–501, 2002 and Tissue Antigens 61, 286 –291, 2003. The following alleles could not be distinguished A*0301/03N (frequency entered under A*0301) A*2402/09N/11N (entered under A*2402) Cw*0302/04 (en- tered under Cw*0302) Cw*0801/03 (entered under Cw*0801) DQB1*0301/04 (entered under DQB1*0301). Human Immu- nology 65, 1045–1047 (2004). © American Society for Histo- compatibility and Immunogenetics, 2004. Published by Elsevier Inc. Allele Gene frequency A*01 0 A*0101 0 A*0102 0 A*02 0.399 A*0201 0.158 A*0202 0 A*0203 0 A*0204 0 A*0205 0 A*0206 0.216 Allele Gene frequency A*0207 0 A*0208 0 A*0209 0.025 A*0210 0 A*0211 0 A*0212 0 A*0213 0 A*0214 0 A*0215N 0 A*0216 0 A*0217 0 A*0218 0 A*0219 0 A*0220 0 A*0221 0 A*0222 0 A*0224 0 A*0225 0 A*0226 0 A*0236 0 A*03 0.092 A*0301 0.075 A*0302 0.017 A*11 0.008 A*1101 0.008 A*1102 0 A*1103 0 A*1104 0 A*23 0 A*2301 0 A*24 0.092 A*2402 0.075 A*24020102L 0.017 A*2403 0 A*2404 0 A*2405 0 A*2406 0 A*2407 0 A*2408 0 A*2410 0 A*2413 0 A*2414 0 A*25 0 A*2501 0 A*2502 0 A*26 0.017 A*2601 0.017 A*2602 0 A*2604 0 A*2605 0 A*2606 0 A*2607 0 A*2608 0 A*2609 0 A*29 0 A*2901 0 A*2902 0 1045 Human Immunology 65 (2004) 0198-8859/04/$–see front matter © American Society for Histocompatibility and Immunogenetics, 2004 Published by Elsevier Inc.

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HLA-A, -B, -Cw, -DQB1 and-DRB1 Allele Frequencies in aKalash Population from Pakistan

A. Mohyuddin*, S. Khaliq, Q. Ayuband S.Q. MehdiBiomedical and Genetic Engineering Laboratories,Islamabad, PakistanE-mail: *[email protected]

This population from northern Pakistan, Latitude 35–37N Lon-gitude 71–72E consisted of 69 Caucasian individuals. The indi-viduals were drawn from a rural environment where the grand-parents had also lived and alleles were determined usingsequence specific primers. The Kalash have been isolated forcenturies in the Hindu Kush mountain ranges of northern Pa-kistan and are now confined to three valleys (Bumburet, Ramburand Birir) in the Chitral District of the North West FrontierProvince. The Kalash are polytheistic and their cultural tradi-tions have long excited the interest of anthropologists. Theirlanguage, Kalasha, belongs to the Dardic group of Indo-Euro-pean languages. Oral traditions ascribe their origins to a myth-ical place called “Tsiam”, which some claim refers to Syria.Various scholars have attributed their origins to Kurds, Slavs orthe remnants of Alexander’s army. The population currently inresidence in Pakistan are considered to be migrants from Kaf-iristan, also known as Nuristan, in Afghanistan. Current censusfigures indicate that there are only 3,000–6,000 Kalash indi-viduals left in Pakistan. Genetic analysis demonstrates that asizable amount of their genetic makeup is unique and differentfrom the Greek and neighboring northern Pakistani populations.The Kalash population may represent the genetic pool of ances-tral Eurasian populations of Central Asia or early Indo-Europeannomadic pastoral tribes that became sequestered in the valleys ofthe Hindu Kush Mountains. The results have previously beenpublished in Tissue Antigens 59, 492–501, 2002 and TissueAntigens 61, 286–291, 2003. The following alleles could not bedistinguished A*0301/03N (frequency entered under A*0301)A*2402/09N/11N (entered under A*2402) Cw*0302/04 (en-tered under Cw*0302) Cw*0801/03 (entered under Cw*0801)DQB1*0301/04 (entered under DQB1*0301). Human Immu-nology 65, 1045–1047 (2004). © American Society for Histo-compatibility and Immunogenetics, 2004. Published byElsevier Inc.

Allele Gene frequencyA*01 0A*0101 0A*0102 0A*02 0.399A*0201 0.158A*0202 0A*0203 0A*0204 0A*0205 0A*0206 0.216

Allele Gene frequencyA*0207 0A*0208 0A*0209 0.025A*0210 0A*0211 0A*0212 0A*0213 0A*0214 0A*0215N 0A*0216 0A*0217 0A*0218 0A*0219 0A*0220 0A*0221 0A*0222 0A*0224 0A*0225 0A*0226 0A*0236 0A*03 0.092A*0301 0.075A*0302 0.017A*11 0.008A*1101 0.008A*1102 0A*1103 0A*1104 0A*23 0A*2301 0A*24 0.092A*2402 0.075A*24020102L 0.017A*2403 0A*2404 0A*2405 0A*2406 0A*2407 0A*2408 0A*2410 0A*2413 0A*2414 0A*25 0A*2501 0A*2502 0A*26 0.017A*2601 0.017A*2602 0A*2604 0A*2605 0A*2606 0A*2607 0A*2608 0A*2609 0A*29 0A*2901 0A*2902 0

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Human Immunology 65 (2004)0198-8859/04/$–see front matter© American Society for Histocompatibility and Immunogenetics, 2004

Published by Elsevier Inc.

Allele Gene frequencyA*2903 0A*30 0.092A*3001 0.092A*3002 0A*3003 0A*3004 0A*31 0.042A*310102 0.042A*32 0.075A*3201 0.075A*3202 0A*33 0.075A*3301 0.017A*3303 0.058A*34 0A*3401 0A*3402 0A*36 0A*3601 0A*43 0A*4301 0A*66 0A*6601 0A*6602 0A*6603 0A*68 0.108A*680101 0A*680102 0.075A*6802 0.033A*6803 0A*6804 0A*6805 0A*69 0A*80 0A*8001 0

B*07 0.007B*0703 0B*08 0.043B*13 0.072B*14 0B*1401 0B*1402 0B*15 0.065B*18 0.007B*27 0.094B*35 0.181B*37 0.058B*38 0.058B*39 0B*40 0B*41 0B*42 0B*44 0.058B*45 0B*46 0B*47 0

Allele Gene frequencyB*48 0B*4801 0B*4802 0B*49 0B*50 0B*51 0.275B*52 0.007B*53 0.007B*54 0B*55 0.014B*56 0B*57 0.007B*58 0.043B*67 0B*73 0B*78 0B*81 0

Cw*01 0.022Cw*02 0.072Cw*03 0.057Cw*0302 0.043Cw*0303 0.014Cw*04 0.13Cw*05 0.022Cw*06 0.138Cw*07 0.152Cw*0701 0.065Cw*0702 0.087Cw*0703 0Cw*0704 0Cw*08 0Cw*0801 0Cw*0802 0Cw*12 0.101Cw*1202 0.014Cw*1203 0.087Cw*14 0.145Cw*15 0.13Cw*16 0.029Cw*1601 0Cw*1602 0.029Cw*17 0

DQB1*02 0.217DQB1*03 0.224DQB1*0301 0.159DQB1*0302 0.065DQB1*030302 0DQB1*0305 0DQB1*04 0.014DQB1*05 0.21DQB1*06 0.188DQB1*0601 0.13DQB1*0602 0.058

DRB1*01 0.058

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Allele Gene frequencyDRB1*03 0.094DRB1*04 0.13DRB1*07 0.138DRB1*08 0.014DRB1*09 0DRB1*10 0.051DRB1*1001 0.051DRB1*11 0.094DRB1*1122 0DRB1*12 0DRB1*13 0.13DRB1*1302 0DRB1*14 0.094DRB1*15 0.196DRB1*16 0

Haplotype Frequency (%)A*02-B*08-Cw*04 5A*02-B*15 4.6A*02-B*15-DRB1*15 4.3A*02-B*27-DRB1*04 4.3A*02-B*35-Cw*1203 7.9A*02-B*35-DRB1*13 7.9A*02-B*37 5.7A*02-B*37-Cw*0602 5.7A*02-B*44-DRB1*07 5A*02-B*51-Cw*14 7.2A*02-B*51-DRB1*04 7.2A*03-B*38 5.7A*03-B*38-Cw*0702 5.7A*03-B*38-DRB1*14 4.3A*24-B*51 5.7A*24-B*51-DRB1*15 4A*30-B*13 6.5A*30-B*13-Cw*0602 6.5A*30-B*13-DRB1*11 4.3A*33-B*58 4.3A*33-B*58-DRB1*03 4.3A*68-B*27 5.6B*13-Cw*0602 7.2B*27-Cw*02 7.2B*35-Cw*04 7.9B*35-Cw*1203 8.6B*5-Cw*15 9.5B*51-Cw*14 14.4DRB1*03-DQB1*02 8.6DRB1*04-DQB1*0301 7.3DRB1*07-DQB1*02 12.3DRB1*11-DQB1*0301 7.8DRB1*13-DQB1*06 12.3DRB1*14-DQB1*05 9.4DRB1*15-DQB1*0601 12.3

HLA-A, -B, -Cw, -DQB1 and-DRB1 Allele Frequencies in aPathan Population from Pakistan

A. Mohyuddin*, S. Khaliq, Q. Ayuband S.Q. MehdiBiomedical and Genetic Engineering Laboratories,Islamabad, PakistanE-mail: *[email protected]

This population from Pakistan, Latitude 32–35N Longitude69–72E consisted of 100 Mixed Origin individuals. The in-dividuals were drawn from an urban and rural environmentwhere the grandparents had also lived and HLA alleles weredetermined using sequence specific primers. The Pathans in-habit the North West Frontier Province and Balochistan Prov-ince in Pakistan and parts of neighbouring Afghanistan. Theyspeak an Indo-European language, Pushto. Legends claim thatthey are either the lost tribe of Israel or descendants of soldiersthat came with Alexander the Great. However this region ofPakistan has seen numerous invasions in the course of itshistory and it would seem that the Pathans are an admixture ofmany races including Greek, Parthian, Persians and Turks.The results have previously been published in Tissue Antigens61, 286–291, 2003 and 59, 492–501, 2002. The followingalleles could not be distinguished A*0301/03N (frequencyentered under A*0301) A*2402/09N/11N (entered underA*2402) Cw*0302/04 (entered under Cw*0302)Cw*0801/03 (entered under Cw*0801) DQB1*0301/04 (en-tered under DQB1*0301). Human Immunology 65,1047–1049 (2004). © American Society for Histocompatibil-ity and Immunogenetics, 2004. Published by Elsevier Inc.

HLA allele Gene frequencyA*01 0.128A*0101A*0102 0A*02 0.148A*0201 0.082A*0202 0A*0203 0.005A*0204 0A*0205 0.005A*0206 0.031A*0207 0A*0208 0A*0209 0A*0210 0A*0211 0.02A*0212 0A*0213 0A*0214 0A*0215N 0A*0216 0A*0217 0

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Human Immunology 65 (2004)0198-8859/04/$–see front matter© American Society for Histocompatibility and Immunogenetics, 2004

Published by Elsevier Inc.