摘要:

The maximum impact of retrospective genetic coun selling (i.e. after the birth of an affected child) is considered in the case of recessive diseases which can be diagnosed at or soon after birth. The calculations are made both for theoretical distributions of sibship size, such as the Poisson and the negative binomial, and for empirically ascertained distributions. It is shown that the reduction in birth incidence of the disease which can be achieved in one generation in this way is modest, and that it will become even smaller with the trend towards greater uniformity in sibship size with a reduced mean number of children, which may be expected because of the generally accepted need for quantitative control of human reproduction. It is pointed out that prospective genetic counselling (i.e. through the detection before procreation of heterozygotes for diseases such as sickle-cell anaemia) affords hope for far more substantial reductions in birth incidence.

ISSN:0001-5652    

DOI:10.1159/000152460

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A chromosomal study was performed on 174 patients with Down’s syndrome, all inmates at an institution for the mentally retarded. Among them, 8 translocations, 1 double trisomy, 1 case of mosaicism and 1 case with a deleted extra chromosome number 21 were found. The remaining 163 cases were regular trisomies 21. Three of the translocations were of the type (14q21q), and 5 were (21qGq). The results of studies published previously in Finland, taken with the present data, give an incidence of translocations (3.2% of the total number of cases of Down’s syndrome) which agrees well with those of corresponding surveys from other countr

ISSN:0001-5652    

DOI:10.1159/000152461

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Previous results on an association between placental alkaline phosphatase phenotypes and the frequency of spontaneous abortion in a material from Uppsala in southern Sweden were confirmed in a hospital series study from Honolulu. A study from Umeå in northern Sweden showed contradictory results, however, which leaves the question of an eventual relationship between placental alkaline phosphatase phenotypes and abortion rate open

ISSN:0001-5652    

DOI:10.1159/000152462

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A method is described for demonstration of guanylate kinase isoenzymes. In the human organism there are seven different isoenzymes, and there are distinct differences in component pattern among the various tissues. The molecular weights of the components are 25,000 or 31,000. The data presented may indicate that in man there are more than one genetic locus determining guanylate kinase. In red cell hemolysates of 385 individuals, no variation in guanylate kinase component pattern was observed.

ISSN:0001-5652    

DOI:10.1159/000152463

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

534 West Malaysian aborigines examined had the common CA Ia carbonic anhydrase pattern. Gene fre quency estimates based on PGM1 phenotypes of 920 West Malaysian aborigines were 0.68 for PGM11, 0.31 for PGM21, and 0.01 for another allele tentatively classified as PGM71. We found an increase in frequency of PGM11, from a low of 0.51 in east central part of West Malaysia to 0.78 in the northwestern part of West Malaysia. The number of heterozygotes observed was less than the Hardy-Weinberg expectations in each of the five groups included in the study. 40 of 59 other groups reviewed in the literature were also deficient in number of heterozygotes. Population structure could be responsible for the heterozygote deficit observed in this study, but failure to detect rare alleles and negative heterozygote selection cannot be ruled out.

ISSN:0001-5652    

DOI:10.1159/000152464

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A population from the island of Westray is described in which there have been found a number of examples of an electrophoretic variant of red cell indophenol oxidase.

ISSN:0001-5652    

DOI:10.1159/000152465

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A random sample of 582 blood donors from the district of Naples, Italy, was examined for the electrophoretic pattern of the red cell 6-phosphogluconate dehydrogenase. This population was found to be polymorphic and the gene frequency of the rarest allele (PGDC = 0.018 ± 0.004) was found to be similar to that described for other populations in Europe

ISSN:0001-5652    

DOI:10.1159/000152466

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Glucocorticoids increased the activity ofisozymes B and D of amino acid naphthylamidase inthree cultured human continuous cell lines but not in twodiploid cell lines. Inhibitors of transcription and translation like actinomycin D and cycloheximide preventedthe enzyme induction.

ISSN:0001-5652    

DOI:10.1159/000152467

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Sernylan, phencyclidine hydro chloride, numbers were determined for 211 sera: 158 E1uE1u, 26 E1uE1a, 13 E1aE1a,8 E1uE1f 3 E1uE1s, 1 E1a E1s, and 2 E1fE1s. Sernylan numbers of serum containing the usual and/or the dibucaine variant cholinesterase are similar to dibucaine numbers of the same serum.Sernylan numbers of serum containing the fluoride variant cholinesterase are slightly higher than dibucaine numbers of the same serum.

ISSN:0001-5652    

DOI:10.1159/000152468

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A modified gene counting scheme is shown to givemaximum likelihood estimates of gene frequencies. Illustrative examples are given using data from the Child Health and Development Studies in Oakland, California.

ISSN:0001-5652    

DOI:10.1159/000152469

出版商:S. Karger AG    

年代:1972

数据来源: Karger