| Budget Amount *help |
¥3,200,000 (Direct Cost: ¥3,200,000)
Fiscal Year 2000: ¥1,400,000 (Direct Cost: ¥1,400,000)
Fiscal Year 1999: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Research Abstract |
After cloning the FUT2 gene, molecular analyses of FUT2 have indicated the heterogeneity of FUT2 alleles and the ethnic specificity of null alleles in various populations. A nonsense mutation G428A (se428) is a predominant nonsecretor allele in Africans and Europeans, whereas a missense mutation A385T (se357,385) is included in a common Se enzyme-deficient allele in East Asian populations. In addition to rare alleles having missense mutations, nonsense mutations or small deletions in the FUT2 reported, a fusion gene (sefus) in Japanese individuals and a complete deletion (sedel) of the coding region of FUT2 in Indian individuals with the Bombay phenotype were identified as null alleles. We analyzed the FUT2 gene in Samoan and Bangladeshi populations, and we found two distinct Alu-mediated large deletions of the FUT2, both lost the full coding region of the FUT2 gene. One of them found in Bangladeshi population was sedel and the other found in Samoan population was a novel deletion alle
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le of the FUT2 (sedel2). Three inactivating alleles, se357,385, se357,571 and sedel2, were encountered in the Samoan population and their frequencies were 0.396, 0.167 and 0.104, respectively. There were four inactivating alleles, se302, se357,385, se428 and sedel, in the Bangladeshi population and their frequencies were 0.191, 0.074, 0.234 and 0.074, respectively. The se428 allele with frequency of about 50% is a predominant nonfunctional allele in African, European and Iranian populations and no se357,385 allele is found in these populations. On the other hand, the se357,385 with frequency of about 50% is a predominant null allele in East Asian populations, although the se428 is present as a rare null allele. The presence of both se428 (0.234) and se357,385 (0.074) in a Bangladeshi population (Table 1) suggests the admixture of Aryans and Asians in Bangladesh. The C302T mutation (se302) was first identified in a Thai population, its frequency in this population (0.014) was much lower than that in the Bangladeshi population (0.188). Therefore, this mutation might be generated in certain South Asian populations. Less
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