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application/pdf, Uncoupling protein 2 (UCP2), mapped to chromosome 11q13 in humans, plays an important role in energy metabolism and body weight regulation. Some positive results have been reported for associations of obesity and diabetes in Caucasians with the polymorphism of the UCP2 gene in the 3'-untranslated region (3' UTR) of exon 8 (insertion and deletion types). We examined the genotypes of adult men in Aomori Prefecture situated in northern Japan, in order to investigate associations between the polymorphism and obesity. In the present study, in addition to the insertion type of 457bp, a new genotype composed of 502bp was detected, while the deletion type of 412bp was not. Although the sequence of inserted 45bp in the 457bp type was entirely identical to that reported previously, the fragment was inserted at the 111bp from the 3' end of the exon 8. In the 502bp type, the same fragment was further added to the 457bp type. The new genotype was observed in 4 of 18 subjects as the 457/502 heterozygote and other subjects were the 457/457 homozygote. Significant associations were found between the polymorphism of UCP2 gene and obesity in adult Japanese men. Weight, thicknesses of the subcutaneous adipose tissues at triceps and lateral abdomen, fat percentage and fatmass were significantly higher (p, 弘前医学. 57(1), 2005, p.35-42

The estrogen receptor (ER) gene polymorphisms of PvuⅡ and XbaⅠ restriction were examined in parallel with bone mineral density of the lumbar vertebrae (BMD) and bone metabolic markers, such as serum bone Gla protein (BGP), serum bone alkaline phosphatase (B-ALP) and urinary hydroxyproline (Hyp), in 178 healthy Japanese women, 30 of whom were premenopausal and 148 postmenopausal. The allele was defined as capital P or X, when the ER gene was not digested with Pvu Ⅱ or Xba Ⅰ ; otherwise, it was defined as small letter p or x. The distribution of the Pvu Ⅱ and Xba Ⅰ restriction fragment length polymorphism (RFLP) was as follows:PP, 32 (16.9%):Pp, 96 (50.8%); pp. 61 (32.3%) and XX, 5 (2.6%);Xx, 74 (39.2%);and xx, 110 (58.2%);respectively. The allele frequencies were 42.3% for P, 57.7% for p, 22.2% for X and 77.8% for x. In PX haplotype distribution, 5 (2.6%), 19 (10.1%), 8 (4.2%), 51 (27.0%), 45 (23.8%), 4 (2.1%) and 57 (30.2%) of the subjects had PPXX, PPXx, PPxx, PpXx, Ppxx, ppXx and ppxx types, respectively. Neither PpXX nor ppXX haplotype was found in the study subjects. Pvu Ⅱ genotypes had no correlation with either BMD or biochemical markers for the bone metabolism. Although the subjects with heterozygous Xx genotype had higher BMD than those with homozygous XX or xx, Xba Ⅰ genotypes did not have any statisti- cally significant correlation with the bone metabolic markers. These results suggest that ER gene polymorphisms of Pvu Ⅱ and Xba Ⅰ restriction may not have any effect on either osteogenetic or osteoclastic steps of the bone metabolism, at least in Japanese middle-and higher-aged women.

In population genetics, the absence of the departure from Hardy-Weinberg equilibrium (HWE) is usually tested when a population study of a certain DNA marker is performed to show the observed allele frequencies represent those of the whole population. The goodness-of- fit test ( X2 test) assuming X2 approximation has frequently been used with classical blood type markers having a few alleles. However, new tests suitable for DNA markers having many alleles, such as homozygosity test, likelihood ratio test and Guo-Thompson's (G-T') exact test, have recently been devised. In the present study, appropriate tests for HWE was studied using population data of 206 Japanese individuals with 9 different short tandem repeat loci. Firstly, we found that the recommendation of NRC II for the treatment of rare allele frequencies (If a bin in the database contains fewer than five entries, it is pooled with adjacent bins so that no bin has fewer than five) is quite reasonable for personal identification in forensic sciences. Secondly, we proposed that homozygosity test, likelihood ratio test and G-T's exact test should be applied altogether and HWE of the sample population should be valid only when all of the three tests were cleared.

申立人の推定上の母の夫だけでなく戸籍上の父母も死亡していた母子鑑定例を紹介する。申立人と相手方である推定上の母と戸籍上の父母の5人の子の計7人について31項目の血液多型の検査を行った。申立人はいずれの検査によっても推定上の母の子として否定されなかった。母権肯定確率を小松の方式により計算したところ0.8554となった。戸籍上の父母のとりうる型の組合せを5人の子の型から推定した。その結果,GC型とClR型において戸籍上の父母と申立人とのあいだの親子関係が否定された。DNA分析の結果も上記の結論を支持した。したがって,申立人は相手方である推定上の母の真の子とみなされた。

The molecular basis of group A xeroderma pigmentosum (XP) was studied and 3 mutations of the XP group A complementing gene (XPAC) were identified. One was a G→C transversion at the 3’splice acceptor site of intron 3, which caused aberrant RNA splicing resulting in loss of enzyme activity of the XPAC protein. This transversion creates a new cleavage site for the restriction nuclease AlwN I. Analysis of AlwN I restriction fragment length polymorphism (RFLP) showed a high frequency of this mutation in Japanese patients with group A XP: 16 of 21 unrelated Japanese patients were homozygous and 4 were heterozygous for this mutation. The Second mutation was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). Of 21 unrelated Japanese group A XP patient examined, one was a homozygote for this mutation and 3 were compound heterozygotes for this mutation and for the splicing mutation of intron 3. The third mutation was a nucleotide transversion altering the Tyr-116 codon (TAT) to a nonsense codon (TAA). Of the Japanese patients, 2 had this mutant allele. The latter two mutations create new cleavage sites for the restriction nucleases Hph I and Mse I, respectively. Our data indicate that almost all Japanese cases of group A XP are caused by one or more of these 3 mutations. Therefore, by RFLP analysis of PCR-amplified DNA sequences using the 3 restriction enzymes, described above, rapid and reliable diagnosis of group A XP can be achieved in almost all Japanese subjects including prenatal cases and carriers.

2014年度