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Human hair has been commonly classified according to three conventional ethnic human subgroups, that is, African, Asian, and European. Such broad classification hardly accounts for the high complexity of human biological diversity, resulting from both multiple and past or recent mixed origins. The research reported here is intended to develop a more factual and scientific approach based on physical features of human hair. The aim of the study is dual: (1) to define hair types according to specific shape criteria through objective and simple measurements taken on hairs from 1,442 subjects from 18 different countries and (2) to define such hair types without referring to human ethnicity. The driving principle is simple: Because hair can be found in many different human subgroups, defining a straight or a curly hair should provide a more objective approach than a debatable ethnicity-based classification. The proposed method is simple to use and requires the measurement of only three easily accessible descriptors of hair shape: curve diameter (CD), curl index (i), and number of waves (w). This method leads to a worldwide coherent classification of hair in eight well-defined categories. The new hair categories, as described, should be more appropriate and more reliable than conventional standards in cosmetic and forensic sciences. Furthermore, the classification can be useful for testing whether hair shape diversity follows the continuous geographic and historical pattern suggested for human genetic variation or presents major discontinuities between some large human subdivisions, as claimed by earlier classical anthropology.
We have developed a simple function for accurately estimating target height for use in evaluating growth and growth-promoting therapies in Taiwanese children. The heights of parents and their adult offspring born in the 1970s were determined in 1,229 healthy families who accompanied another family member to our pediatric clinic. We directly measured the heights of the population-based cohort of adult offspring. The heights of their parents were based on self-report. Both the parents and their offspring were healthy. The increases in height between the two generations were 1.49–3.19 cm for boys and 2.03–2.61 cm for girls. These increases lie between those reported for Chinese children in Hong Kong (4.2–4.8 cm) and children in Sweden (0.7–1.0 cm). Final height was underestimated using the corrected midparental height method and was overestimated using the final parental height model developed from Swedish data. We developed a new linear model by fitting our data: boy height = 79.3 0.56(midparental height); girl height = 35.2 0.76(midparental height). The intercept and slope of the model are similar to those reported for Swedish girls but not to those reported for Swedish boys. Use of the new equations derived from our data may increase the accuracy of estimates of target height in Taiwanese children. The intermediate position of our fairly representative Taiwanese sample in both final height and generational increases in final height may reflect an intermediate stage between the Swedes and Hong Kong Chinese in the secular trend of heights.
Cystic fibrosis (CF) is the most common autosomal recessive disease in the European (Caucasian) population, with an incidence of 1:2,000 to 1:8,000. The ΔF508 mutation (66%) is predominant among more than 1,300 different mutations of the CFTR gene. The population of the state of Bahia, in northeastern Brazil, is highly admixed (mainly African and Portuguese descendants), and so far, no study has been carried out to assess the molecular basis of CF in this population. We determined the ΔF508 mutation frequency in 503 individuals from the general population of Salvador, the capital of the state of Bahia, and in 144 CF patients from several cities in Bahia. In the general population samples we found 4 individuals heterozygous for the ΔF508 mutation (allele frequency of 0.4%). This frequency was lower than that found in the state of Rio de Janeiro, in southeastern Brazil, and similar to that reported for the state of Paraná, in the far south. In the CF patients we found 9 heterozygous individuals and 8 homozygous individuals (allele frequency of 8.68%) for the ΔF508 mutation. This frequency is considerably lower than the average frequency of CF in the world population and in the Brazilian CF population of European ancestry (47%). These data could be explained by the intense admixture among the population in Bahia, and they suggest a heterogeneous molecular basis for CF in this area of Brazil.
The genotype frequencies of three metabolic polymorphisms were determined in a sample of a typical community in central Mexico. CYP1A1*3, GSTM1, and GSTT1 polymorphisms were studied in 150 donors born in Mexico and with Mexican ascendants; with respect to ethnicity the subjects can be considered Mestizos. PCR reactions were used to amplify specific fragments of the selected genes from genomic DNA. An unexpected 56.7% frequency of the CYP1A1*3 allele (which depends on the presence of a Val residue in the 462 position of the enzyme, instead of Ile) was found, the highest described for open populations of different ethnic origins (i.e., Caucasian, Asian, African, or African American). The GSTM1 null genotype was found with a frequency of 42.6%, which is not different from other ethnicities, whereas the GSTT1 null genotype had a frequency of 9.3%, one of the lowest described for any ethnic group but comparable to the frequency found in India (9.7%). The frequency of the combined genotype CYP1A1*3/*3 and the GSTM1 null allele is one of the highest observed to date (or perhaps the highest): 13.7% among all the ethnicities studied, including Caucasians and Asians, whereas the combination of CYP1A1*3/*3 with the GSTT1 null allele reached only 2.8%. The GSTM1 null allele combined with the GSTT1 null allele, on the other hand, has one of the lowest frequencies described, 4.24%, comparable to the frequencies found in African Americans and Indians. Finally, the combined CYP1A1*3/*3, GSTM1 null allele, and GSTT1 null allele genotype could not be found in the sample studied; it is assumed that the frequency of carriers of these combined genotypes is less than 1%. CYP1A1*3 and CYP1A1*2 polymorphisms were also evaluated in 50 residents in a community of northern Mexico; the CYP1A1*3 frequency was 54%, similar to that found in the other community studied, and the CYP1A1*2 frequency was 40%, which is high compared to Caucasians and Asians but comparable to the frequency found in Japanese and lower than the frequency found in Mapuche Indians. Haplotype frequencies for these CYP1A1 polymorphisms were estimated, and a linkage disequilibrium value (D) of 0.137 was calculated.
In this descriptive study we investigated the genetic structure of 513 Mexican indigenous subjects grouped in 14 populations (Mixteca-Alta, Mixteca-Baja, Otomi, Purépecha, Tzeltal, Tarahumara, Huichol, Nahua-Atocpan, Nahua-Xochimilco, Nahua-Zitlala, Nahua-Chilacachapa, Nahua-Ixhuatlancillo, Nahua-Necoxtla, and Nahua-Coyolillo) based on mtDNA haplogroups. These communities are geographically and culturally isolated; parents and grandparents were born in the community. Our data show that 98.6% of the mtDNA was distributed in haplogroups A1, A2, B1, B2, C1, C2, D1, and D2. Haplotype X6 was present in the Tarahumara (1/53) and Huichol (3/15), and haplotype L was present in the Nahua-Coyolillo (3/38). The first two principal components accounted for 95.9% of the total variation in the sample. The mtDNA haplogroup frequencies in the Purépecha and Zitlala were intermediate to cluster 1 (Otomi, Nahua-Ixhuatlancillo, Nahua-Xochimilco, Mixteca-Baja, and Tzeltal) and cluster 2 (Nahua-Necoxtla, Nahua-Atocpan, and Nahua-Chilacachapa). The Huichol, Tarahumara, Mixteca-Alta, and Nahua-Coyolillo were separated from the rest of the populations. According to these findings, the distribution of mtDNA haplogroups found in Mexican indigenous groups is similar to other Amerindian haplogroups, except for the African haplogroup found in one population.
Isolated tribes in remote areas are important for genetic studies, and one such little known subtribe of the Adi tribe, namely, the Adi Panggi (Pangi) of the Upper Siang District of Arunachal Pradesh, India, was studied for surname distribution to deduce the deviation from random mating and genetic kinship between villages. The estimates of homonymy (homozygosity) vary between villages; husbands show wider variation (0.009 to 0.23) than wives (0.005 to 0.054). The remote villages of Sumsing and Sibum and Geku Town show lower entropy among husbands' surnames than among Panggi wives. The highest equivalent surname number was found among Sibum husbands (9.9), Panggi wives (12.6), and Panggi and non-Panggi wives (13.5). The estimates of unbiased random isonymy among husbands and wives together show the smallest values in Sibum (0.05) and the highest values in Sumsing and Ramku (0.16). The random and nonrandom components of the inbreeding coefficient show avoidance of inbreeding among the Panggi villages (−0.012 to −0.27) except in Sibum (0.012). Genetic kinship between villages based on the Mij distance shows different clusters of villages among husbands and wives. Both the Panggi wives and the Panggi and non-Panggi wives show a similar pattern of clustering between villages. The wide homonymy variation between villages among the patrilocal Adi Panggi indicates differential genetic kinetics among husbands and wives, avoidance of inbreeding, and female-oriented differential gene flow with little effect on the overall inter-village genetic kinship.
Two human leukocyte antigen (HLA) class I loci (HLA-A and HLA-B) and one class II locus (HLA-DR) were typed at the DNA level in the Sicilian population. Study participants were of Sicilian origin (183 for class I loci and 260 for class II loci) and live in three towns, chosen on the basis of geographic position and different historical events. These towns are Sciacca (southwest Sicily, located at sea level, conquered by Arabs in a.d. 814), Piana degli Albanesi (northwest Sicily, 720 m above sea level, has maintained religious, cultural, and linguistic peculiarities traced to Albanian settlement in 1488), and Troina (northeast Sicily, 1,120 m above sea level, known as the first settlement of Normans). The assumptions underlying the study of genetic structure, based on HLA allele polymorphism, are that these three towns are located in areas that can be distinguished according to historical criteria and that they are likely to have contributed to cultural and probably genetic differences. As such, the high frequency of some alleles in Sciacca and Troina seems to be correlated with Greek, Phoenician, North African, and Arab influence. In accordance with different human settlements in Sicily, we found that the HLA allele frequencies support the existence of genetic differentiation between the western and eastern sides of Sicily. This separation is attributed to Greek colonization in the east and to Phoenician-Carthaginian-Arab influence in the west. Moreover, the comparisons of all allele frequencies between Mediterranean and African populations show the same trend, highlighting in some cases European origin and in other cases non-European origin.
We studied the distribution of ABO blood group frequencies of the Galo and Mishing subtribes of the Adi tribal cluster in East Siang District, Arunachal Pradesh, India, in order to investigate the intertribal and temporal allelic variation. Blood groups O and AB showed higher frequencies (28.4%, 27.4%) in the Galo, whereas group O (45%) was predominant in the Mishing. Allele r is significantly different in the Galo (44.6%) and Mishing (60.3%). The chi-square test indicated significant deviations from Hardy-Weinberg equilibrium. Adi tribes show high heterogeneity and indicate significant temporal variation in ABO genotype frequencies in the Galo, Mishing, and Padam, whereas the Panggi, a small isolated subtribe of Adi, show similar and stable frequencies.
The Marma, Tripura, and Chakma are tribal populations of South Asian countries such as Bangladesh. The populations are thought to be immigrants who started moving from their original home in the Far East toward the west and south. We randomly selected 80 Marma, 53 Tripura, and 43 Chakma to determine acetylation capacity and acetylator phenotype. The mean acetylation capacities were 63% in the Marma, 65% in the Tripura, and 70% in the Chakma. The acetylator phenotype was bimodally distributed as fast and slow acetylator. The frequencies of fast acetylator were 83% in the Marma, 89% in the Tripura, and 88% in the Chakma. According to acetylation capacity, the tribes are different from the founder nontribal populations of Bangladesh. They identify themselves as having a separate single population origin. The frequency of fast acetylator predicted served as the acetylator status of the Far East Asian population. The segregation of populations by acetylator phenotype on geographic longitude might be appropriate for geonational identification of Asian populations.