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Biomedical subjects

R L Kirk

Publications and source records attributed to R L Kirk.

At least 37 records · Page 2Linked to original sources
PubMed1983

Investigation of PGM1(3), PGM1(6), and PGM1(7) variants by isoelectric focusing. Evidence for new subtypes of the PGM1(3) and PGM1(7) alleles.

A total of 345 haemolysates previously phenotyped by starch gel electrophoresis and known to contain the products of the PGM1(3), PGM1(6), and PGM1(7) alleles have been analyzed by thin layer polyacrylamide gel isoelectric focussing in the pH range 5-7. Two common subtypes, 3+ and 3-, of the PGM1(3) allele have been found in a number of Pacific populations. A single form of the PGM1(7) allele was observed in the Western Caroline Islands. In contrast, one of two Indian PGM1(7) variants focussed to a different position when compared with the form found at polymorphic frequency in the Western Caroline Islands. Only one type of the PGM1(6) allele was detected during the present investigation.

Alleles↗
PubMed1983

HLA antigens and non-HLA chromosome 6 markers in Micronesians from Nauru.

HLA-A, B, C and DR antigen distributions, together with non-HLA chromosome 6 markers C2, BF, C4A, C4B and GLO, were determined in Micronesians from Nauru. Genetic distance analysis showed the close affinity between Nauruans and Filipinos, while linkage disequilibrium values confirmed some ancestral relationship between Nauru and Melanesia. HLA gene frequencies in Nauruan, Filipino and Spanish populations were used to estimate the proportionate contributions of these groups to the present day Chamorros of Guam as 36% Spanish, 17% Filipino and 47% Micronesian.

Adult↗
PubMed1983

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.

Female↗
PubMed1982

The genetic demography of the Gainj of Papua New Guinea. I. Local differentiation of blood group, red cell enzyme, and serum protein allele frequencies.

Allele frequencies are reported for 19 blood group, red cell enzyme, and serum protein loci (ABO, Rh, MN, Hb-A, LDH-A, LDH-B, SOD, PGM-1, PGM-2, 6PGD, GPT, ESD, ADA, ACP, PGK, MDH, Alb, Hp, and Tf) determined from 310 blood samples collected among the Gainj, a small population of tribal horticulturalists from highland Papua New Guniea. Fourteen of these loci display genetic variants, and ten of them are sufficiently polymorphic to permit a preliminary analysis of Gainj population structure. Patterns of variation among subdivisions of the population are analyzed using an approach analogous to a multivariate analysis of variance with unbalanced design, and weighted genetic distances are extracted from the results. The distance analysis indicates that patterns of genetic variation within this population reflect the geographical distribution of subdivisions, as well as subdivision size and movement among subdivisions. A parallel analysis of the Gainj and two other tribal groups from highland New Guinea, the Murapin Enga and the Simbai Valley Maring, suggests that the Gainj are both genetically divergent from neighboring populations and internally highly differentiated.

Adult↗
PubMed1982

Genetic survey of an isolated community in Bali, Indonesia. I. Blood groups, serum proteins and hepatitis B serology.

320 adults and children of an isolated community of Bali, Indonesia, have been tested for blood groups ABO, Rh, MNS, P, Lewis, Duffy, Kell, for haptoglobin and transferrin and for hepatitis B surface antigen and antibodies. Phenotype distribution and gene frequencies are given for the total population tested and for two subgroups representative of the inbred population of the isolate and of the non-inbred part of the population. Significant differences between the two subgroups show a clear genetic drift in the inbred population. The study brings biological support to the ethnological hypothesis of population migrations in this area. Tests for hepatitis B surface antigen reveal a lower prevalence of the disease than in most other south-east Asian populations.

Adolescent↗
PubMed1982

Genetic survey of an isolated community in Bali, Indonesia. II. Haemoglobin types and red cell isozymes.

316 adults and children from an isolated community of Bali, Indonesia, have been tested for 18 red cell enzyme systems controlled by 24 loci, and haemoglobin. 13 loci were invariant. The other 11 loci showed variations similar to those found previously in Southeast Asian populations. Of special interest is the occurrence of lactate dehydrogenase Calcutta-1 variants, indicating Indian gene admixture, and PGM92, indicating a Melanesian genetic component. A few individuals were CA1 1-3Bali and this is possibly the same as other CA1 1-3 types found in the Philippines and Guam. Nearly 10% were glucose-6-phosphate dehydrogenase (G6PD) deficient and 2% carried Hb E. A fast electrophoretic variant of G6PD was detected in 5 persons. Two sub-groups of the population were studied. Gene frequencies in the Isolate supported the view that inbreeding and genetic drift have made this sub-group genetically distinct from the non-inbred part of the population.

Adolescent↗
PubMed1982

Distribution of complement factors Bf, C2 and C6 in the Western Pacific.

Complement components Bf, C2 and C6 have been typed in various Micronesian, Polynesian, Melanesian and Indian populations of the Western Pacific. BfS and BfF gene frequencies are heterogeneous throughout the region but the number of alleles in the Bf system is restricted. C2 is also restricted with the C22 gene frequency from 0-1.3% in all groups except Fijian Indians where it is 4.8%. The C6A and C6B frequencies of Polynesians, Melanesians and Fijian Indians are within the narrow range of frequencies reported for these alleles from other parts of the world. In the Micronesians of Nauru, a third polymorphic allele (C6Nauru) occurs together with a number of rare alleles (C6R). The Nauruan C6 gene frequencies are C6A 44.6%, C6B 45.2%, C6Nauru 6.7% and C6R 3.5% C6Nauri is present in low frequencies in most other Western Pacific populations and C6R variants occur in Polynesians.

Alleles↗
PubMed1982

Microevolution and migration in the Pacific.

Archaeological, linguistic, and ethnocultural studies suggest the Pacific was colonized by two, or possibly three, genetically distinct groups of people. Australoids moved first into New Guinea and Australia, followed by Papuan-speaking people, who penetrated as far as Santa Cruz in the Solomons. Austronesian speakers began their migrations 6,000 years ago and mixed with preexisting populations to a varying extent until they finally reached the unpopulated islands. Here, in Samoa and Tonga, they developed the cradle of Polynesian culture, which spread to the central Pacific and from there north to Hawaii and west to New Zealand. Detailed genetic studies have indicated that, in New Guinea, geographical propinquity is an important determinant of genetic similarity between populations. A wider survey indicates, however, that Austronesian speakers have more in common, despite great geographical separation than is true for Papuan speakers. In the Banks and Torres Islands and the Solomons, Polynesian "Outliers" can be differentiated from other Melanesian island populations, while for the Pacific as a whole it is shown that Amerindian populations cluster with north Mongoloids and Polynesian populations cluster with south Mongoloids, with Australian Aborigines and New Guinea Papuans maintaining separate identities. It is concluded that Polynesians originated from a south Mongoloid population, losing a number of specific marker genes along their migratory path, and becoming modified genetically before establishing themselves in the Polynesian centre of dispersal.

Australia↗
PubMed1981

Further studies on the immunoglobulin allotypes (Gm, Am and Km) in India.

A total of 652 sera from Delhi, Bombay and Madras were tested for G1m (f, z, a, x), G3m (b0, 1, 3, 5, c3, 5, g, s, t, and v), A2m (1 and 2) and Km (1). The results indicate marked north to south clinical variation in the haplotype distribution, with Gmz,a;g varying from 0.226 to 0.382, and Gmz,a,x;g varying from 0.072 to 0.181, while Gmf; b varies from 0.505 to 0.296 and Gmz,a;b varies from 0.155 to 0.052. These differences are further magnified between high castes in the north and low castes in the south. In addition, high castes in both the north and south have indications of Asian admixture. Finally the Gmz,a;b haplotype found in Indians, is probably of central Asian origin. The frequency of A2m (2) positive specimens shows a tendency to increase from north to south and this difference is accentuated between high castes in the north and low castes in the south. The frequency of Km1 did not show any significant variation by location or caste.

Humans↗
PubMed1981

Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea.

Data on rare and private electrophoretic variants have been used to estimate mutation rates for populations belonging to 55 language groups in Papua New Guinea. Three different methods yield values of 1.42 x 10(-6), 1.40 x 10(-6), and 5.58 x 10(-6)/locus per generation. The estimates for three islands populations off the north coast of New Guinea--Manus, Karkar, and Siassi--are much lower. The variability in mutation rates estimated from rare electrophoretic variants as a function of population size is discussed. The mean mutation rate in Papua New Guinea is less than half the estimates obtained for Australian Aborigines and Amerindians.

Enzymes↗
PubMed1980

Distribution of complement C'2 and C'6 types in Australian cases of diabetes mellitus.

A series of patients with juvenile onset diabetes (IDDM) and mature onset diabetes (NIDDM) have been typed for genetic variants of two sets of complement factors. For the HLA-linked C'2 system, there was found a significant increase of the C'2 2-1 type in IDDM compared with NIDDM patients or healthy controls. No such increase in any phenotype was observed for the non-HLA-linked C'6 system. These observations emphasize again the genetic distinction between IDDM and NIDDM, and the role of chromosome 6 in controlling susceptibility to the insulin-dependent form of the disease.

Alleles↗
PubMed1980

Thyroid autoantibodies in aborigines.

This study of 335 full-blood Aborigines reveals an increased prevalence of thyroid autoantibodies with age and the female sex. There is no significant difference in the prevalence of thyroid autoantibodies in this group and in that of Caucasians recently studied in Armidale, New South Wales. The absence of racial difference suggests that environmental factors are more important in determining the prevalence of thyroid autoimmunity in a community.

Adolescent↗
PubMed1980

HLA studies in Australian multiple-case families of juvenile onset diabetes mellitus.

The pathogenesis of insulin-dependent diabetes mellitus (IDDM) will remain obscure until the number of genetic mechanisms contributing to susceptibility can be clarified. Australian multiple-case families of IDDM have been examined for concordance in IDDM and HLA haplotypes and analysed for goodness-of-fit to hypotheses of one or two high-risk susceptibility genes. Diabetic siblings are HLA-identical in 75% of cases, confirming the association between HLA and IDDM, and suggesting recessively in inheritance of IDDM susceptibility. However, the most striking finding is that 52% of IDDM offspring are positive for both HLA-DRW3 and DRW4, compared with only 8% of their non-diabetic sibs and 1% of the general population. The risk for IDDM for the HLA-DRW3/DRW4 heterozygote is 37.2, and the chance that a child from a multiple-case family of IDDM will himself develop the disease is 6.5 times as great if he is a HLA-DRW3/DRW4 heterozygote than if he is not positive for both antigens. Possible genetic mechanisms are discussed, but the present data strongly support the interaction of two HLA-DR associated susceptibility genes in IDDM and rejects the hypothesis of a single autosomal recessive susceptibility gene.

Australia↗
PubMed1980

Linkage disequilibria between HLA-B and the rarer properdin factor B alleles, BfF1 and BfS1.

Phenotypic association and highly significant linkage disequilibria have been demonstrated for HLA-B18 and BfF1 and HLA-Bw50 and BfS1 alleles among Caucasians from Australia and the United States (San Francisco Bay area). The HLA-B18, BfF1 association appears to be associated with HLA-Aw30. It is possible that BfS1 arose as a mutation, after the evolutionary splitting of HLA-Bw21, on an HLA-Bw50 haplotype, and that BfF1 arose on an HLA-Aw30, B18 haplotype.

Alleles↗