[Geographic distribution maps of human genes in China].

The first set of geographic distribution maps of human gene in China are published, including 12 alleles: IB and IO of ABO system, m of MNS system, P1, Rh-D, A1 and A11 of HLA system, Gm1;21 and Gm1,3;5 of immunoglobulin, AK1, deficient type of G6PD, and PTC test blindness gene t. These maps not only show the geographic distribution of alleles, but also can be used to study the origin and dispersal of some alleles, gene flow, and the effect of some selective factors on gene frequencies.

Genetic relationship of populations in China.

Despite the fact that the continuity of morphology of fossil specimens of modern humans found in China has repeatedly challenged the Out-of-Africa hypothesis, Chinese populations are underrepresented in genetic studies. Genetic profiles of 28 populations sampled in China supported the distinction between southern and northern populations, while the latter are biphyletic. Linguistic boundaries are often transgressed across language families studied, reflecting substantial gene flow between populations. Nevertheless, genetic evidence does not support an independent origin of Homo sapiens in China. The phylogeny also suggested that it is more likely that ancestors of the populations currently residing in East Asia entered from Southeast Asia.

Transferrin subtypes in 11 south China minority populations.

Transferrin subtypes were determined by isoelectric focussing (IEF) in a total of 2,121 individuals from 11 South China minority populations. The C1, C2 and DCHI alleles were present in all the populations; B alleles were lacking, C4 was found in 3 populations and C3 in 6. C2 and C4 allele frequencies are notable in these minority groups. The frequency of the C2 allele was higher (0.25-0.38) than that of Han Chinese (0.18-0.25). In Bai the C2 frequency was as high as 0.38. The C4 allele was present at a low frequency (less than 0.01), which suggests that this allele probably existed in the ancestral Mongoloid population at a low frequency and increased in frequency in Amerindians due to genetic drift or other factors.

[Studies on polymorphism of C6 in Han nationality of China].

The polymorphism of C6 in three groups of Han nationality was investigated by using polyacrylamide gel isoelectric focusing and immunoblotting technique. The gene frequencies obtained are as follows: Zhangzhou City (Fujiang Province) C6*A:0.4634, C6*B:0.5000, C6*R:0.0366 (C6*B2:0.0317); Chendu City (Sichuan Province) C6*A:0.4975, C6*B:0.4480, C6*R:0.0545 (C6*B2:0.0396); Harbin City (Heilongjiang Province) C6*A:0.4708, C6*B:0.5219, C6*R:0.0073 (C6*B2:0.0073). The frequency of C6*A in Mongoloid populations is usually lower than 0.5, while that of black people ranges between 0.5 and 0.6 and that of white people is higher than 0.6. The other difference between Caucasian and Mongoloid is that the former has very few C6*B2 while the frequency of C6*B2 in the latter ranges from 0.03 to 0.07.

[Genetic polymorphism of AcP, EsD, 6-PGD and GPT in eleven ethnic groups of China].

The genetic polymorphism of red cell acid phosphatase (AcP), Esterase D (EsD), 6-phosphogluconate dehydrogenase (6-PGD) and Glutamic pyruvic transaminase (GPT) in eleven ethnic groups of China was studied by starch gel electrophoresis. The results of 2272 tested showed that the gene frequencies of AcPB1 in Dong, Hui, Bai, Tujia, Miao, Yi, Tibetan, Man, Yao, Hani, Buyi, etc. were 0.7835, 0.7958, 0.8137, 0.7750, 0.7624, 0.8038, 0.8075, 0.8035, 0.7725, 0.6488, 0.6896, EsD1 gene frequencies were 0.6418, 0.7315, 0.6005, 0.6025, 0.6411, 0.6411, 0.6558, 0.6305, 0.6020, 0.6023, 0.6368. 6-PGDA gene frequencies 0.9279, 0.9381, 0.9387, 0.9150, 0.9356, 0.9014, 0.7764, 0.8818, 0.9851, 0.9233, 0.9410. GPT1 gene frequencies 0.4075, 0.5367, 0.5049, 0.4824, 0.5322, 0.6106, 0.6313, 0.6400, 0.3985, 0.4930, 0.3976, respectively. In addition, some rare variants were found.

Polymorphism of human red cell glyoxalase I in six ethnic groups of China.

A total of 1242 individuals from six Chinese ethnic groups were studied with respect to the glyoxalase I polymorphism using agarose gel electrophoresis. The GLO1*1 gene frequency and the number of subjects tested in each population are as follows: Uygur 0.2466 (219), Hui 0.1621 (219), Dong 0.1866 (201), Bai 0.1921 (203), Tujia 0.1075 (200), and Miao 0.1600 (200). The differences in the GLO1 gene frequencies between some of these populations are significant.

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.

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 0.04, the frequency of Fya is rather high, the frequency of K extremely low and Jka is about 0.4. In the three nationalities under study, Mongolians are characterized by a high frequency of IB, M higher than 0.5 and a relatively high frequency of P1. Koreans are characterized by a high frequency of IA, slightly more M than N and rather high CDE in the Rh system. The peculiarities of the Zhuangs are a rather high frequency of IO and M and the lowest frequency of P1.

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.

Prevalence of primary adult lactose malabsorption in three populations of northern China.

Lactose absorption capacity was examined in 641 apparently healthy adolescents and adults (447 males and 194 females with an average age of 22.9 years and an age range of 16-46 years) using a field version of the lactose tolerance test with breath hydrogen determination. In the total sample, 89 lactose absorbers and 552 lactose malabsorbers were identified. Lactose malabsorption was most frequent in a subgroup of Han (Chinese) from northeastern China (229 of 248 subjects, 92.3%). Among 198 Mongols from Inner Mongolia, there were 174 lactose malabsorbers (87.9%). The frequency of lactose malabsorption was lowest in a group of Kazakhs, traditional herders from the northwestern region of Xinjiang (149 of 195 subjects, 76.4%). Reported symptoms of lactose intolerance were significantly more frequent in lactose malabsorbers. The findings in northern Han are similar to the reported lactose malabsorption frequency in southern (mainly overseas) Chinese, and correspond with the absence of animal milk from traditional Chinese diets. The relatively low prevalence of lactose malabsorption among the Kazakhs suggests that lactose persistence may be frequent in herding pastoralist populations of southwest Asia.

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.