Screening for Down's syndrome.
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Biomedical subjects
Publications and source records attributed to I White.
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For the study of group specific component (Gc) and phosphoglucomutase (PGM1) polymorphism, isoelectric focusing was performed on eleven tribal and non-tribal populations of Himachal Pradesh, India. They were chosen to illustrate interregional and intraregional variations. The subtype frequencies of these two systems showed clear differences in the genetic constitution of these populations of Himachal at both levels. There is a large increase in the mean heterozygosity (H) for each system by isoelectric focusing over that shown by electrophoresis. Discriminant and distance analyses both suggest that the subtype frequencies provide greater potential for the study of genetic diversity among populations. The data on these additional alleles found by isoelectric focusing are examined for some of their genetic and anthropological implications.
The polymorphism of PGM1 and Gc was studied by isoelectric focusing in pulmonary tuberculosis patients and controls. For the Gc system, the phenotypic frequencies did not differ significantly, but the PGM1 system showed a significant difference in the tuberculosis patients compared to controls. The data presented here show the potential of newly developed techniques to distinguish subjects with susceptibility to disease.
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For the determination of the group-specific component (Gc) and phosphoglucomutase (PGM1) phenotypes, isoelectric focusing was performed on two samples, one of Jat Sikh of northwest India, the other of northeast English. The subtype frequencies of these two systems do not differentiate the two populations sampled. Synthesis of the existing data shows distinct PGM1 and Gc subtype frequencies in various ethnic and racial groups. The anthropological implication of these subtype frequencies is discussed.
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A total of 254 Rajputs and Brahmins of the Gaddi tribe from the regions of Kangra and Chamba in Himachal Pradesh, north-west India, were examined for red cell PGM1 phenotypes by isoelectric focusing (IEF). All the ten possible phenotypes from the four alleles of PGM1 described by IEF were found in this population. Comparison of gene frequencies in the present two ethnic groups and with the only other study available on Asians from London shows that IEF is another useful biochemical method for the study of population diversity.
A total of 270 serum specimens from Keneba and Manduar villages of The Gambia and 126 from Bantu of Transkei were examined for the group-specific component (Gc) phenotypes by isoelectric focusing. Only one individual showed phenotype 2-2 in the Bantu population, and the sub-allele frequencies showed a distribution very characteristic of African populations. A new rare mutation, Gc1C34, was found in heterozygous combination with Gc2 allele. The synthesis of the existing Gc sub-type data was examined for its anthropological implications.
Allele frequencies are presented for subtypes of phosphoglucomutase locus 1 and the group-specific component (Gc) in samples from a number of human populations. Compared with each other and with published data, continental samples are very similar in gene frequency to their reported distributions in the literature, but the small island populations are much more variable.
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