摘要:

Complex segregation analysis was applied to a sample of 1,293 nuclear families each with at least 1 diabetic patient. The families were divided into two groups depending on the proband’s treatment: insulin-dependent (IDG) and insulin-independent (IIG). Heterogeneity analysis has revealed a highly significant difference in the IIGgroup when families were divided into different mating types. The higher recurrence risk was found in the group with affected mothers. Also evidence for a major recessive gene was found in the IGG group, while it was not possible to distinguish between the hypothesis for absence of a major locus and absence of polygenic inheritance in the IDGgroup. Risks to develop the disease were calculated for a few typical situation

ISSN:0001-5652    

DOI:10.1159/000153067

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

When correlations are estimated by maximum likelihood method from the same sample, Fisher’s z transformations of the correlations (as well as the sample correlations themselves) are shown to be asymptotically distributed as multivariate normal with appropriate mean and dispersion matri

ISSN:0001-5652    

DOI:10.1159/000153068

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Four unrelated Calabrian families in which an αJ-globin chain variant segregated have been studied. Structural studies identified the variant as Hb Norfolk (α2 57 (E6) Gly → Asp β2) in one family, and Hb J Oxford (α2 15 (A13) Gly → Asp β2) in three families. The abnormal hemoglobin has been quantitated both in absolute and relative terms in all the carriers in order to obtain information on the possible heterogeneity among the normal αA-haplotypes. The findings in one family strongly suggest that two quantitatively different α-haplotypes segregate. This provides evidence for the occurrence of a quantitative polymorphism of the α-haplotypes also in this

ISSN:0001-5652    

DOI:10.1159/000153069

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

A new family with the rare condition of hereditary essential myoclonus (HEM) and the literature on HEM are presented. Some of these cases may previously have been reported under the title of Friedreich’s paramyoclonus multiplex. The present family, which is number 13 in the literature and in which 9 members in three generations had this benign disorder, is described. The diagnostic criteria have been tabulate

ISSN:0001-5652    

DOI:10.1159/000153070

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Pi phenotypes were classified by isoelectric focusing in sera of 151 families with a total of 242 children and in sera of 142 mother-child pairs. The six common subtypes of PiM are genetically determined by three alleles named PiM1, PiM2, and PiM3. No exceptions to the postulated mode of inheritance have been found. The possibility of further heterogeneity of the intermediate variant PiM3 is discussed.

ISSN:0001-5652    

DOI:10.1159/000153071

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The HLA-GLO linkage relationship was investigated among 37 single backcross families with 97 children and 20 double intercross families with 51 children. For the total number of families the value zmax = 14.600 for Θ = 0.060 was found. A total of 11 cross-overs between HLA and GLO were found leading to a recombination fraction of 0.067. 221 unrelated haplotypes were examined for linkage disequilibrium between HLA and GLO, and no disequilibrium was found

ISSN:0001-5652    

DOI:10.1159/000153072

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Pseudocholinesterase activity and the phenotypes controlled by the E1 locus have been determined in a sample of 307 Down’s syndrome patients and 206 patients suffering from nonspecific mental retardation and compared to those in the healthy population. Both groups of patients have an elevated frequency of phenotypes possessing the rare E1f allele. The mentally retarded patients have a higher mean pseudocholinesterase activity than those with Down’s syndrome who, in turn, have higher activity than the healthy contr

ISSN:0001-5652    

DOI:10.1159/000153073

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother. 33 and 21% of an oral hydroxyproline load (200 mg/kg) was excreted by the sisters, 5.4% by the mother, and 1.3% by normal subjects. Plasma and erythrocyte values in the sisters and their mother were elevated, indicating that extra and intracellular hydroxyproline pools were increased. Analysis for urinary glycolate and oxalate (metabolic products of hydroxyproline) showed no increased excretion by the two sisters, although the mother’s excretion was normal. A deficiency of hydroxyproline oxidase in the two sisters was indicated by the lack of Δ1-pyrroline-S-hydroxy-S-carboxylic acid excreti

ISSN:0001-5652    

DOI:10.1159/000153074

出版商:S. Karger AG    

年代:1979

数据来源: Karger

摘要:

The propositus was referred because of sterility and oligospermia. His karyotype was 45, XY, t(13q14q). His father was dead; his mother and the only brother, who was fertile, both had 47 chromosomes, but a normal phenotype and normal intelligence. The additional chromosome was three quarters the size of a G chromosome and had satellites on the short and long arms.

ISSN:0001-5652    

DOI:10.1159/000153075

出版商:S. Karger AG    

年代:1979

数据来源: Karger

ISSN:0001-5652    

DOI:10.1159/000153076

出版商:S. Karger AG    

年代:1979

数据来源: Karger