摘要:

The use of selectively neutral, multiallelic molecular markers to trace the transmission of tightly linked genes is examined theoretically for all genetic counseling situations in which the diagnosis of deleterious progeny is desired. Formulae are computed in terms of the gametic frequency distribution in the population, for the expected fraction of matings (αi) which allow exact diagnosis on the basis of the marker alleles transmitted, assuming an arbitrary number (n) of alleles segregating at the marker locus and possibly nonrandom associations between the loci. In each case, it is shown that the diagnostic value of a multiallelic marker increases as n increases, with approximately 1 – (1/n) matings informative, on avera

ISSN:0001-5652    

DOI:10.1159/000153533

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

The frequency of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 50 Hb S homozygotes (SS) and 98 Hb S heterozygotes (AS) was determined and compared with the frequency obtained in individuals with normal haemoglobin (AA). The observed number of SS patients with G-6-PD deficiency was significantly greater than the expected value (p& < 0.05). The frequency of G-6-PD deficiency in AA, AS and SS was found to be 0.172, 0.214 and 0.420, respectively. A statistically significant increase of G-6-PD deficiency was apparent in the Saudi sicklers. The possibility that G-6-PD deficiency and Hb S gene interact, influencing the survival of the carriers of these genetic abnormalities, is discussed.

ISSN:0001-5652    

DOI:10.1159/000153534

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

Blood specimens from Jalari and Brahmin caste populations of Andhra Pradesh, India, were examined for blood groups, red cell enzymes, and serum proteins. Of 33 genetic loci studied, 16 were observed to be invariant among both the castes, while common polymorphism or rare variants were observed in one or both populations for the other loci. Three rare heterozygotes at the phosphoglucoisomerase locus, two different peptidase A variants occurring once each and single cases of rare 6-phosphogluconate dehydrogenase and transferrin variants were recorded. Also a few cases of hemoglobin AS and anhaptoglobinemia were observed. The difference in rare variants between the two castes is conspicuous but large differences in their gene frequencies at the polymorphic loci were not observed. It is pointed out that the frequency of rare variants in the tribal and caste populations of Southern India appears to be higher than observed in temperate-dwelling civilized populations.

ISSN:0001-5652    

DOI:10.1159/000153535

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

In a Finnish family a silent allele was found in the transferrin (Tf) system. As determined by gel electrophoresis and immunoblotting, the Tf type of the father was CD, the mother C, and the child D. The serum Tf concentration in grandmother, mother, and child was less than 50% of normal.

ISSN:0001-5652    

DOI:10.1159/000153536

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

Discriminant analysis was used to explore multivariate associations with ABO blood types in a biracial sample of 898 Bogalusa youths. Dependent variables included blood pressure (systolic and diastolic), serum lipid and lipoprotein levels (total cholesterol, α-, β-, and pre- β-lipoprotein cholesterol, and triglycerides), and anthropometric variables (height, weight, right arm length, triceps skinfold thickness, and a computed ponderal index). Analyses performed within race showed that several variables including β-lipoprotein cholesterol, systolic blood pressure, and the ponderal index were sufficient to discriminate between individuals possessing the B antigen (B and AB) and those not possessing the B antigen (A and O) in the White subsample. However, height in itself can account for the detected difference, B individuals being taller than non-B individuals by a mean value of 2.4 cm. A concordant, but not significant effect was found in the Black subsample. Further tests support the conclusion that the strongest association is between ABO blood type and hei

ISSN:0001-5652    

DOI:10.1159/000153537

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

A newborn population of Cardiff, Wales, was screened for variation at three blood group loci (ABO, Rhesus and MN) and four enzyme loci (ACP-1, PGM-1, ADA and EST-D). Birth weights were measured. There were no significant differences between mean birth weights or birth weight variances for individuals homozygous or heterozygous at the MN and the four enzyme loci. (ABO and Rhesus loci cannot be used in these tests.) There was no significant heterogeneity in contingency tables relating phenotypes at the seven loci to birth weight. There were no significant differences in mean heterozygosity per locus between babies placed in different birth weight categories, ranging from 2.5 to 4.2 kg. The genetic variation screened appears therefore to be neutral with respect to this character.

ISSN:0001-5652    

DOI:10.1159/000153538

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

The presence of a PGM1 null allele in a mother and her son was deduced from their inconsistent phenotypes. Quantitation studies were done to confirm the half-normal enzyme activity. Phenotype analysis of 29 additional genetic markers gave no indication of non-parentage, making non-maternity a very unlikely explanation for the discrepancy.

ISSN:0001-5652    

DOI:10.1159/000153539

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

There are considerable interindividual differences in maximal oxygen uptake per kilogram of body weight (VO2 max/kg), maximal heart rate (max HR) and maximal blood lactate (max blood La) measured during a progressive exercise test. The aim of the study was to quantify the familial relationships for these variables. Parents and children of 38 families of French-Canadian descent were submitted to a modified Balke treadmill test. VO2 max/kg and max HR were the highest values reached during the test for 1 min. Max blood La was obtained from a blood sample taken 2 min after the test. The effects of age and sex were significant for max blood La and VO2 max/kg in each generation. Scores were thus adjusted through multiple regression procedures (age + sex + age × sex + age2), yielding residuals which were submitted to further analysis. Intraclass correlations (ri) were significant in pairs of sibs for max blood La and max HR, i.e. 0.28 (p < 0.01) and 0.43 (p < 0.05), respectively. For VO2 max/kg, pairs of spouses and sibs were about similarly correlated (ri = 0.20 and 0.15; p < 0.05). Data suggested that children were more related to their mother than to their father for VO2 max/ kg, VO2 max/kg of fat-free weight, and particularly for max HR. It was concluded that familial resemblance and heritability estimates for maximal aerobic power, max HR and max blood La were quite low and generally nonsignificant. Correlations between biological sibs were, however, consistently significant for max HR and max blood La. The suggestion of a maternal effect in maximal aerobic power should be further investigated

ISSN:0001-5652    

DOI:10.1159/000153540

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

Esterase D (EsD) phenotypes were determined in 5,366 unrelated adult Swedes and in 2,066 mother-child pairs. The calculated allele frequencies were 0.894 for EsD1 and 0.106 for EsD2. One rare phenotype, EsD 3-1, was found. No mother-child exclusion was observed.

ISSN:0001-5652    

DOI:10.1159/000153541

出版商:S. Karger AG    

年代:1985

数据来源: Karger

摘要:

The gene and phenotype frequencies of α1-antitrypsin were studied in patients with (49) and without (92) a family history of schizophrenia. A significant difference with respect to phenotype (p& <0.05) and gene (&p< 0.025) frequencies was found between the two groups of patients. Among patients with a family history of schizophrenia there was a significant increase of the M1 gene and a decrease of the M2 gene. There were no significant differences between schizophrenic patients and controls.

ISSN:0001-5652    

DOI:10.1159/000153542

出版商:S. Karger AG    

年代:1985

数据来源: Karger