摘要:

Using materials from a nationwide screening project on inborn errors of metabolism in Japan, the incidence of histidinemia, phenylketonuria, galactosemia and homocystinuria were found to be 140, 16, 14 and 7 in 1 million live births, respectively. Geographical variations were observed, especially in histidinemia, which are most likely due to chance.

ISSN:0001-5652    

DOI:10.1159/000153410

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Frequencies of blood groups (ABO, Rh, MNSs, P, Kell, Lewis and Duffy) and HLA antigens were studied in a series of patients from northern Sweden with abdominal aortic aneurysms. The following significant differences from the controls were found: a decreased frequency of the Rh-negative blood group and increased frequencies of the Kell-positive and MN blood groups. Previously reported associations with the ABO and Rh systems were not confirmed.

ISSN:0001-5652    

DOI:10.1159/000153411

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

A study of the distribution of the summed (right plus left) a-b ridge count in 1,000 normal subjects showed a significant deficit of counts at the two ends of the range. In males the distribution was significantly different from a normal distribution, but in females a similar trend did not reach statistical significance. No significant sex difference was found, although it is known that abnormal sex chromosome complements may affect the a-b ridge count. The influence of the sex chromosome complement on the a-b ridge count appears to be smaller than the effect of the sex chromosome complement on the total finger ridge count. The a-b ridge count is probably also less genetically determined than the total finger ridge count.

ISSN:0001-5652    

DOI:10.1159/000153412

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Frequencies of HLA A, B, C, and DR antigens were studied in 100 schizophrenic patients and 919 controls from South Sweden. The patients were diagnosed according to the DSM III criteria and divided into four clinical subgroups (hebephrenic, paranoid, residual, and undifferentiated). In the schizophrenic patients as a whole significant increases were found for A2, A3, B17, B27, and Cw2 and decreases for A1, A11, and B8. A previous positive association with A9 from the same population was not confirmed. A significant heterogeneity between the four clinical subgroups was found for A3 and Bw35. Most of the associations between HLA antigens and schizophrenia reported in the literature appear to be fortuitous and dependent on the large number of trials made. However, confirmed increases have been found for A9 and B17, and confirmed decreases have been observed for A1 and B7. Some evidence for a heterogeneity between clinical subgroups was found in the present as well as in previous investigations.

ISSN:0001-5652    

DOI:10.1159/000153413

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

In 1972, over 2,000 blood specimens were obtained from two Iranian populations, Mazandaranians and Guilanians, who live on the southern coast of the Caspian Sea. All specimens were screened for hypocatalasemics and randomly selected samples were analyzed for several blood groups (A1A2BO, MNSs, Rh, P, Fy, K, Di, Jk, Lu, Nya), red cell enzyme systems (glucose-6-phosphate dehydrogenase, phosphoglucomutase, acid phosphatase) and serum protein groups (Hp, Tf). The genetic constitution of these Iranian populations was described, and the genetic relationship to Mongolians and Caucasians was discussed.

ISSN:0001-5652    

DOI:10.1159/000153414

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

A series of 1,008 newborns of indigent mothers from a mixed Brazilian population was studied with respect to the effect on birth weight of heterozygosity for sickle cell anemia, fetal sex, maternal age, parity, smoking, alcohol consumption and black admixture. Maternal heterozygosity for sickle cell anemia had no measurable effect on birth weight. Significant effects were found for male sex (increase) and smoking (decrease).

ISSN:0001-5652    

DOI:10.1159/000153415

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Several procedures for evaluation of paternity testing data have been suggested in the literature, the majority of them being based on the paternity index statistic (L) or some transform of it. A major problem has been that the true distribution of the paternity index has not been known, making it difficult to perform quantitative evaluations of different procedures. We present an algorithm for computation of the distribution of the paternity index within the limits of a completely controlled amount of approximation. Using this algorithm we evaluate the power and the rate of erroneous classifications of a standard routine test based on a fixed number of genetic marker systems. The efficiency of this standard test procedure is compared to a stepwise (sequential) procedure where in each step one or several marker systems are scored for the mother-child-putative father trio. We suggest that a sequential strategy for testing may be more efficient than one that is based on a fixed number of systems. A sequential procedure can provide information about the accused man’s state of paternity in a considerably larger fraction of cases without a substantial increase of the frequency of incorrect classifications. In addition, the cost measured as the average number of marker systems that has to be tested for each trio may be lower in the case of sequential testing than with a fixed number of system

ISSN:0001-5652    

DOI:10.1159/000153416

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

Restriction fragment length polymorphism of the RC8 probe, which is loosely linked to the Duchenne muscular dystrophy locus, was studied in a French population. Among 22 females, 18.1 % were found to be heterozygous for the two frequent B1 and B2 alleles, and a rare allele was found in 1 woman with a corresponding variant band at 3 kb. Among 18 males, 6 were found to have the B2 allele. The B2 gene frequencies were 0.09 and 0.33 in males and females, respectively. This difference was statistically significant (p < 0.05), but may nevertheless be fortuitous. There was no significant gene frequency difference between the English and French populations.

ISSN:0001-5652    

DOI:10.1159/000153417

出版商:S. Karger AG    

年代:1984

数据来源: Karger

摘要:

A comparative analysis of the C bands of chromosomes 1,9, 16 and Y of 27 Caucasian and 27 Japanese males is reported. The mean of the total centromeric heterochromatin of the three pairs (Σh1, 9, 16) is larger in Caucasian than in Japanese subjects, but Caucasians showed a lower mean of C band size of chromosome Y. Heritability of the C band of the Y chromosome was studied in 26 families

ISSN:0001-5652    

DOI:10.1159/000153418

出版商:S. Karger AG    

年代:1984

数据来源: Karger