Phylogenetic resolution of complex mutational features at Y-STR DYS390 in aboriginal Australians and Papuans.

Y-chromosomal short tandem repeats (STRs) are used for the study of male aspects of human evolution as well as for forensic applications and paternity testing. Both applications require an understanding of the underlying mutational mechanisms that create variability. We describe complex mutations at the substructured DYS390 STR locus in 97 natives of the New Guinea/Australian region.

[Adrenoleukodystrophy and adrenomyeloneuropathy. Clinical biochemical and molecular genetic findings].

Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disease affecting 1 in 20,000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adulthood. Recently, the ALD gene has been identified by positional cloning. We report three males patients with AMN and a fourth patient with juvenile ALD.

Distribution of apolipoprotein E genotypes in Asian Indians, Hungarians, and Papua New Guineans.

We report here the distribution of apo E genotypes and allele frequencies in Asian Indians, Hungarians, and Papua New Guineans using the DNA based analysis. Frequency of the apo E4 allele was thrice as high in Papua New Guineans as compared to the Caucasians. The rare apo E2 allele was also present in higher frequency in the Papuas as compared to other populations.

Serum protein and erythrocyte enzyme polymorphisms in twelve population groups of Hungary.

The distribution of the serum proteins C3, TF, HP, GC, BF, AMY2, PLG, GM, and KM and the erythrocyte enzyme polymorphisms GLO, GPT, ESD, ACP, 6-PGD, ADA, AK, PGM1 and PGP amongst twelve population groups in Hungary was investigated. Gene frequencies and genetic distances are discussed in relation to the present geographical locations of these groups and their probable history of migration.

Alcohol use, abuse, and alcohol-related disorders among ethnic groups in Hungary. Part II: Palócs from Mátraderecske.

An epidemiological study on alcohol drinking habits, alcohol metabolism rate, alcohol-related acute physiological symptoms, and alcohol misuse among Palócs, an ethnic minority in Hungary, was conducted. The demographic and sociocultural correlates revealed their ethnic identity: low to moderate education, relatively low number of children per family and higher percentage of skilled workers among males. Alcohol use survey revealed that frequency of alcohol consumption among Palóc male population is considerably high.

Alcohol use, abuse, and alcohol-related disorders among ethnic groups in Hungary. Part I: Csángós from Egyházaskozár Region.

This paper reports the results of a study on alcohol drinking habits, alcohol-related acute symptoms, and alcohol abuse among Csángós, an ethnic minority in Hungary. The demographic data revealed their social characteristics: growing old, low education, endogamous marriages, early maternal age at birth of the first baby, and a high child number per family. Alcohol use survey revealed that alcohol consumption of the Csángós is considerably high; more than half of Csángó males and more than one-quarter of Csángó females are heavy drinkers.

Ecogenetic and pharmacogenetic studies in Hungary.

12 population groups of Hungary, 1514 individuals altogether, have been studied for polymorphisms of alpha 1antitrypsin, serum cholinesterase, paraoxonase and delta-aminolevulinic acid dehydrase, N-acetyltransferase variation and aldehyde dehydrogenase deficiency. A possible relationship between their allele frequencies and environmental factors in the context of ecogenetic and pharmacogenetic phenomena in Hungary is discussed.

[Benefits of ecogenetics in Hungary].

Five enzymes and one protein were studied in 10 ethnical and two reference groups involving 1370 persons. The frequency of atypical heterozygotes of plasma cholinesterase was 2.7%.

Monomorphism of formaldehyde dehydrogenase in different populations.

Blood samples from Koreans, Chinese, Hungarians and Germans were analyzed by isoelectric focusing on polyacrylamide gels and stained for formaldehyde dehydrogenase (FDH) activity. Three activity bands (one major and two minor) were observed in all blood samples studied. No distinct intra- and interpopulation differences were observed in the intensity of the three bands.

Red cell enzyme and serum protein polymorphisms in South Korea.

Two population groups in South Korea, one from Kwangju and one from Kangreung, were studied in regard to the erythrocyte enzyme polymorphisms GPT, ACP, GLO, ESD, 6PGD, ADA, AK, PGP and subtypes of PGM1 as well as regarding the serum protein variants of C3, HP, BF, PLG, AMY and the subtypes of GC, TF and PI. The results were compared with data of the population groups from the area of Cheju Island, Taejon and Seoul. The Korean population showed a rather high degree of genetic homogeneity.

Red cell and serum protein polymorphisms in three population groups of South Korea.

Genetic markers ACP1, PGM1 with subtypes, ESD, GLO1, PGD, GPT, PGP, C3, TF and GC with subtypes, BF, HP, AMY, PLG and PI, were studied in three populations in South Korea, one being the population of the industrial capital Seoul, the second a rural group from Taejon and the third the population of Cheju Island. For the polymorphic systems studied in the present work, a general similarity was observed among the three populations, with the exception of GPT and ACP1 (Taejon vs. Seoul) and subtypes of GC (Taejon vs.

Genetic markers among three population groups of Hungary.

Three ethnic groups from Hungary, the general population of Hungary, the Matyo and the Gypsies, were examined with respect to the genetic markers PGP, GLO1, GPT, ACP1, ESD, PGD, ADA, AK1, PGM1 subtypes, C3, BF, HP, GC subtypes, PI, TF subtypes and AMY2. Significant variations were noted for the gene frequencies of GPT and PGD between the Hungarian and Matyo sample. The Gypsies deviate in the systems of GLO1, ACP1, ADA, C3, BF and HP from the Hungarians.

Distribution of alpha-1-antitrypsin and haptoglobin phenotypes in bladder cancer patients.

Frequencies of the alpha 1-antitrypsin (Pi) alleles and haptoglobin phenotypes have been determined in a series of 264 North-German patients with bladder cancer. Compared to a healthy control population, we found a statistically significant decrease of Hp 2-2 phenotype in the patient series. A significant increase of the serum Pi Z allele, as previously shown for patient groups with certain other tumours, could also be confirmed for bladder cancer.

Polymorphism of 6-PGD in South Korea: a new genetic variant 6-PGD Korea.

During population genetic studies in Korea a new variant in the 6-phosphogluconate (6-PGD) system preliminary called 6-PGDKorea was observed.

delta-Aminolevulinic acid dehydrase (porphobilinogen synthase) in two families with inherited enzyme deficiency.

The inheritance of a deficient delta-aminolevulinic acid dehydrase (ALA-D; synonym: porphobilinogen synthase; EC 4.2.1.

Polymorphisms of Pi, Hp, ADA and AK in Mongolian, Korean and Zhuang populations of China.

Three minority ethnic groups from China, Mongolian, Koreans, and Zhuangs were studied for the genetic markers AK, ADA, Hp, and Pi. AK was monomorphic in Koreans and Zhuangs. Significant differences were observed in the Hp system between Mongolians and Zhuangs.

Genetic studies in Atacameño Indians: serum protein and red cell-enzyme polymorphisms.

Phenotype and gene frequencies among Atacameño Indians are presented for nine serum protein polymorphisms (Hp, Gc with subtypes, Tf with subtypes, Amy, C3, Bf, PLG) and nine red-cell-enzyme polymorphisms (AcP, PGM1 with subtypes, AK, ADA, 6-PGD, GPT, EsD, GLO). Four systems--Tf, Amy, AK, ADA were found to be monomorphic. In the PGM1 subtypes an extremely high frequency of PGM1a3 could be observed.

Distribution of eight blood-group systems and ABH secretion in Mongolian, Korean, and Zhuang nationalities in China.

Among different blood-group systems investigated here, the distribution of the ABO system varies most of all, followed by MNSs and P. Although there are differences in ABH secretion in the different populations, no striking regularity has been found. No significant difference has been found in the distribution of the blood-group systems Rhesus, Diego, Duffy, Kell and Kidd in these Chinese populations: the Rh (-) rate is less than 1%, the frequency of Dia is about 0.

Population genetic studies in three Chinese minorities.

Three minority ethnic groups from China (Mongolians, Koreans, Zhuang) were examined with respect to the genetic markers GLO, GPT, ACP, ESD, 6-PGD, PGM1 subtypes, C3, and TF. Significant variations were noted for the gene frequencies of GLO, GPT, ESD, sub PGM1 between Zhuang and Mongolians; for GPT, ACP, ESD, sub PGM1 between Zhuang and Koreans; and for GLO between Mongolians and Koreans.

Aldehyde dehydrogenase isozyme deficiency and alcohol sensitivity in four different Chinese populations.

Four different populations of China were studied regarding aldehyde dehydrogenase isozyme variation and incidence of alcohol sensitivity. While Korean and Mongolian minorities in the north showed an isozyme I deficiency with a frequency of about 25 and 30%, 45-50% of Zhuang and Han were deficient, respectively. Adverse reactions after alcohol drinking were mainly reported by those subjects who showed the lack of aldehyde dehydrogenase isozyme I.

Ecogenetic studies in Atacameño Indians.

Aldehyde dehydrogenase deficiency, N-acetyltransferase variation and the polymorphisms of alpha 1-antitrypsin, serum cholinesterase, paraoxonase, and delta-aminolevulinic acid dehydratase were investigated in 180 Atacameño Indians from the North of Chile. The genetic predisposition of these individuals for possible atypical reactions against environmental agents and drugs, as well as general implications of these findings, are discussed.