Robert Kirk

The distribution of serum protein and enzyme group systems among North Indians.

The distribution of electrophoretic variants in 4 serum protein and 12 red cell enzyme systems has been determined among nearly 500 persons belonging to various castes in North India. No electrophoretic variants were found for transferrin or for the enzyme systems malate dehydrogenase, peptidase B, ‘oxidase’, phosphoglycerate kinase and phosphoglucomutase-locus 2. Two persons with abnormal albumins were detected, and the slower moving band has been identified provisionally as albumin Gainsville. One person with an unusual caeruloplasmin was found also, and this has been identified provisionally as Cp ANigera. In the haptoglobin system the overall frequency of Hp2 = 0.20 is similar to that found previously in North India. The lowest Hp2frequency (0.12) was found among the Scheduled Castes. The PHsc gene in the red cell acid phosphatase system was of low frequency (0.005) as also was the PGDC allele (0.02) in the 6-phosphogluconate dehydrogenase system. Three phenotypes were present in the adenylate kinase system, and the AK2 gene frequency of 0.09 is among the highest values reported so far. For phosphoglucomutase-locus 1, in addition to the common alleles PGM11 and PGM21 there were several examples of the rarer PGM31, PGM61 and PGM71 alleles. PGM11 frequencies varied from 0.63 to 0.79 in different caste groups. Seven examples of heterozygotes for the Calcutta-1 variant of lactate dehydrogenase were detected giving an overall frequency of LDHCal. = 0.007. A single case of Pep A 2–1 was observed in the peptidase A system. Three other enzyme systems showing electrophoretic variation had been studied previously only on Indians living in England. In the present study 3 phenotypes were present for adenosine deaminase, and the ADA2 allele had a range of frequency of 0.06 to 0.20. The latter figure, for the Arora, is the highest frequency so far reported for this allele. Only rare variants were present in the phosphohexose isomerase and NADH diaphorase systems. There were 6 PHI 3–1, 1 PHI 5–1 and 1 PHI 9–1 phenotypes in a total of 490 samples tested. Half of these variants were found among the 83 persons belonging to the Scheduled Castes. In the diaphorase system there were 6 2–1 and 1 4–1 phenotypes distributed between the caste groups.

The polymorphism of the vitamin D-binding protein (Gc); Isoelectric focusing in 3 M urea as additional method for identification of genetic variants

SummarySince the last report numerous new DBP (Gc) variants have been observed; at present a total of 84 different mutants can be distinguished. Several of them have similar electrophoretic mobilities and/or isoelectric points by conventional isoelectric focusing (IEF). IEF in polyacrylamide gels in the presence of 3 M urea is a convenient and effecient method for the detection of hidden variation.

A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes

A 16‐year‐old male with hypospadias and gynaecomastia had a rudimentary uterus with a right Fallopian tube and ovary; the left gonad was a functioning testis. Cytogenetic studies showed cells with46, XX and46, XY sex chromosomes in cultured blood, skin and gonadal tissues. Cells with the46, XX constitution predominated in all tissues. Extensive investigations failed to demonstrate blood cell and serum chimerism, but there was little genetic variation of these characters between family members. Cytogenetic studies demonstrated that the father had contributed different marker chromosomes to the46, XY and46, XX cell lines of the propositus, whereas the mother had contributed the same two informative markers to both cell lines. The patient was a chimera with two diploid cell lines of different sex that had developed from the products of two separate acts of syn‐gamy. Dispermy was demonstrated, and, whereas there was no evidence of different maternal contributions to the chimeric cell lines, uncertainty remains that these were identical.

Distribution of Transferrin (Tf) Subtypes in Asian, Pacific and Australian Aboriginal Populations: Evidence for the Existence of a New Subtype Tfc6

Transferrin subtypes have been determined by isoelectric focussing of sera from 3,787 individuals in selected populations in the Asian, Pacific and Australian area. TfC1 and TfC2 were present in all populations studied. TfC3 was found to be polymorphic in a few populations only. The highest frequency of TfC2 was found in the Soliga (34%), an Indian tribal population, and the lowest TfC2 frequency was in Australian Aborigines (3%). In Pacific island populations TfC2 was found to be variable between 4 and 22%. A new subtype allele, TfC6, was observed at polymorphic frequency in Australian Aborigines.

The Distribution of Blood, Serum Protein and Enzyme Groups on Manus Island (Admiralty Islands, New Guinea)

Blood samples from 45 Usiai and 138 Manus people on the Island of Manus, New Guinea, have been tested for the ABO, MN, Ss, Rh, P, Duffy, Kell and Gerbich blood-group systems, the haptoglobin, transfer

The Distribution of Some Enzyme Group Systems Among Marathis and Gujaratis in Bombay

The distribution of electrophoretic variants in 8 red cell enzyme systems, representing 10 independent gene loci, has been examined in a large series of Marathi and Gujarati blood samples from Bombay.

Linguistic and genetic differentiation in New Guinea

Results of genetic marker studies for populations in various parts of New Guinea have been analysed for the relationship between genetic differentiation, linguistic differences and geographic distance. Single-locus markers, such as the Gm groups, the Gc and the Gerbich systems do not give consistent differences between speakers of Austronesian and Non-Austronesian languages. Similarly, genetic distance techniques applied to gene frequency data do not allow a clear-cut separation based on language alone. A more detailed study of 17 populations in the northern areas of Papua New Guinea suggest that populations cluster together genetically on the basis of geography rather than language. Partial correlation coefficients were obtained for genetic kinship, geographical distance and cognate frequency for populations in the Bogia Subprovince. Kinship is significantly correlated with distance when cognate frequency is held constant. It is concluded that linguistic studies do not provide an infallible guide to ancestral relationships and that postulates of past migrations based on language may be in error unless genetic studies also are taken into account.

Genetic studies among the Kadar of Kerala.

A total of 213 Kadar from a number of villages in the Anamalai Hills, South India have been tested for 4 blood group, 5 serum protein and 15 enzyme systems, as well as haemoglobin. The frequencies of genes in the ABO, MN and Rh blood group systems are compatible with values reported previouslythe fourth blood group system Ina was invariant, all persons tested being In(a-). Similarly no variants were detected in the transferrin, caeruloplasmin and albumin serum protein systerns. The haptoglobin gene Hp1 had a frequency of 0.41, high for Indian populations and also the Gm-1–2allele had a high frequency. Two individuals had the rare phenotype Gm (–1, +2). Amongst the red cell enzyme systems distinctive variants were detected in the phospho-gluconate dehydrogenase, phosphoglucomutase (locus 1) and peptidase B systems. The allele PGDKadar controls an electrophoretically fast variant and examples of combinations of this allele with PGDA, PGDC and itself were observed. In the PGM (locus 1) system an allele controlling a slower than normal component was present and may be identical with the PGD61 (African) allele detected in a black African. Individuals homozygous for this allele and others heterozygous with it and the normal PGM11and PGM12alleles were present. A single person with a peptidase B variant was detected. The mobility of the variant band was indistinguishable from the Pep B 6 in Australian aboriginals. The pb allele of the acid phosphatase system accounted for nearly 90%, Calcutta-1 variants had a frequency of 3.3%, the AK2 gene frequency was only 3.3%, and only two cases of HbS were detected. All other systems were invariant. Theories concerning the origin of the possible negrito-like traits in a small number of Kadar were discussed and the present evidence was considered to support the possibility of past African negro admixture on a small scale. The postulated genetic reconstruction of the ancestral Kadar population suggests that they may have been similar to Melanesian and Australian aboriginal populations, but that this original genetic structure has been modified through incorporating genetic elements not only from black Africans but from surrounding Dravidian populations.

Additional electrophoretic variants of 6-phosphogluconate dehydrogenase

Summary6 new PGD alleles are described. 2 of these (PGDWantoat and PGDCanberra) control proteins that are electrophoretically slow: the other 4 control fast variants.The heterozygotes PGDA/PGDWantoat and PGDA/PGDCanberra give similar band spacing after starch gel electrophoresis, but the relative intensities of the bands in the 2 patterns is different.Of the 4 fast variant alleles PGDKadar controls a gene product with fastest mobility, PGDCaspian is slightly slower, whilst PGDBombay and PGDNatal are similar in the mobility of their gene products, but differ in their reaction to treatment with 2-mercaptoethanol. After treatment with this reagent patterns involving PGDNatal revert to normal. None of the other gene products of the PGD alleles tested are affected by treatment with 2-mercaptoethanol. PGDKadar was found to be polymorphic in the tribal Kadar population of south India. 3 distinctive new patterns were found in this population representing the homozygote PGDKadar/PGDKadar, the heterozygote PGDA/PGDKadar and the heterozygote PGDC/PGDKadar.ZusammenfassungEs werden 6 neue PGD-Allele beschrieben. 2 davon (PGDWantoat und PGDCanberra) sind Kontrollproteine, die elektrophoretisch langsam sind. Die 4 übrigen kontrollieren schnelle Variaten.Die Heterozygote PGDA/PGDWantoat und PGDA/PGDCanberra zeigen einen ähnlichen Abstand der Banden bei Stärkegelelektrophoresis, jedoch sind die relativen Intensitäten der Streifen in beiden Mustern verschieden.Von den 4 schnellen Allelvarianten kontrolliert PGDKadar ein Genprodukt mit schnellster Mobilität; PGDCaspian wirkt etwas langsamer, und sowohl PGDBombay als auch PGDNatal zeigen eine ähnliche Wandlungsgeschwindigkeit, obwohl sie unter Behandlung mit 2-Mercaptoethanol verschieden reagieren. Nach Behandlung mit diesem Reagens werden Muster mit PGDNatal wieder normal. Keine der anderen Genprodukte, der PGD-Allele, die hier geprüft werden, werden durch Behandlung mit 2-Mercaptoethanol beeinflußt. PGDKadar stellte sich in der Kadar-Sippenbevölkerung Südindiens als polymorph heraus. 3 ausgeprägte neue Muster wurden in dieser Bevölkerung entdeckt, nämlich: der Homozygote PGDKadar/PGDKadar, der Heterozygote PGDA/PGDKadar und der Heterozygote PGDC/PGDKadar.

Population Genetic Studies in Kerala and the Nilgiris (South West India)

A total of nearly 1,000 persons belonging to a number of caste, religious and tribal groupings in Kerala and the Nilgiri Hills of South India have been tested for genetic variation in 4 blood group, 5 serum protein and 17 enzyme systems as well as haemoglobin. The distribution of blood groups, serum protein and enzyme groups is similar to that reported for other South Indian populations. Abnormal haemoglobins were detected in several populations. Abnormal haemoglobins were detected in several populations, HbS being present in more than 20% of the Irula and Kurumba in the Nilgiri Hills. In the Kerala populations there were 4 examples of Hb AD and 1 of Hb AE. Genetic distance estimates using the gene frequency data indicate that the closest groups are the Nayar and Izhava and the Brahmin and Nayar. The tribal populations are approximately twice as far from the Nayar as they are from the Izhava. The Todas of the Nilgiri Hills are somewhat closer to the Brahmin of Kerala than they are to the other tribal populations.