Malays. Appl. Biol. (2009) 38(1): 37–42
PATTERNS OF HUMAN DIVERSITY IN MALAYSIA INFERRED FROM Alu INSERTION POLYMORPHISM
WAN NURHAYATI, W.H 1, FARIDA ZURAINA, M.Y1, KHAIRUL, O*2
1Faculty of Applied Sciences, Universiti Teknologi MARA,
40450 Shah Alam, Selangor, Malaysia.
2Forensic Science Unit, Faculty of Allied Health Sciences,
Universiti Kebangsaan Malaysia, 50300 Kuala Lumpur, Malaysia.
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ABSTRACT
Alu insertion can be defined as a family of repetitive element approximately 300 base pairs long, which has more than 500,000 copies distributed throughout the genome. They are identical-by-descent, essentially homoplasy-free and inexpensive to genotype using a variety of approaches. Once inserted in certain loci, these sequences apparently do not suffer any loss or rearrangement. Some of these sequences were inserted, such that the presence or absence of the insertion is polymorphic. Six human specific Aluloci (HS2.43, HS4.32, HS4.75, HS4.65, SB22777 and SB23467) were studied in a buccal sample of 73 unrelated individuals. DNA from buccal swab was extracted using chloroform/isoamyl alcohol extraction method. An attempt was made by amplifying Aluloci from the genomic DNA. The amplified products were detected and separated in 2% gel electrophoresis. All loci studied were polymorphic except for HS4.75 and SB23467. The mean of Aluinsertion frequencies was 0.5534 in Malay, 0.5342 in Chinese and 0.6313 in Indian. The average heterozygosity across loci was higher in Indian (0.3275) than Malay (0.2941) and Chinese (0.2795) whereas the average heterozygosity across ethnic groups varied from 0.4350 in SB22777 to 0.4716 in HS4.32. Across all subpopulations, FSTranged from -0.7888 to 0.0450 suggesting that genetic differentiation existed between Malay, Chinese and Indian ethnic populations in Malaysia.
ABSTRAK
Insersi Alu didefinisikan sebagai elemen yang mempunyai hampir 300 pasangan bes DNA, di mana terdapat lebih daripada 500,000 meliputi seluruh genom manusia. Insersi Aluini menyamai keturunan terdahulu, bebas homoplasi dan mudah untuk digenotip menggunakan pelbagai kaedah. Apabila di masukkan ke dalam lokus tertentu, jujukan ini tidak akan mengalami sebarang kehilangan atau perubahan. Kini, sebahagian daripada jujukan-jujukan ini telah di insersi, memberi gambaran bahawa kehadiran atau ketiadaan insersi ini adalah polimorfik. Kajian telah dijalankan ke atas sel pipi daripada 73 individu yang tidak berkaitan dengan menggunakan enam lokus Aluyang khusus untuk manusia (HS2.43, HS4.32, HS4.75, HS4.65, SB22777 dan SB23467). DNA daripada sel pipi di ekstrak menggunakan kaedah klorofom/ isoamil alkohol. Percubaan dilakukan dengan menggandakan lokus Aludaripada genom manusia. Produk yang telah digandakan ini dipisahkan menggunakan gel elektroforesis yang mempunyai kepekatan 2%. Semua lokus adalah polimorfik kecuali lokus HS4.75 dan lokus SB23467. Purata frekuensi alel adalah 0.5534 bagi etnik Melayu, 0.5342 bagi etnik Cina dan 0.6313 bagi etnik India. Purata heterozigositi bagi setiap lokus adalah diantara 0.4350 bagi SB22777 ke 0.4716 bagi HS4.32. Purata heterozigositi bagi setiap subpopulasi pula adalah tinggi dalam etnik India (0.3275) berbanding Melayu (0.2941) dan Cina (0.2795). Analisis F-statistik bagi setiap subpopulasi memberikan nilai diantara -0.7888 ke 0.0450. Analisis F-statistik ini mencadangkan bahawa terdapat perbezaan genetik diantara kumpulan etnik Melayu, Cina dan India di Malaysia.
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