摘要:

The incidence of cleft lip with or without cleft palate was studied in relatives of Hungarian index patients and found to be 4.86% in sibs, 0.75% in uncles/aunts and 0.31% in first cousins. Relating these figures to the incidence in the general population, first degree relatives have 47 times, second degree relatives 7 times andthird degree relatives 3 times the population incidence of this malformation. The incidence in parents was 1.92%. The heritability estimates were 78% (92% from sibs), 82 and 84% from first, second, and third degree relatives as calculated by the method of Falconer, modified by us. In the present series affected mothers had babies with more severe types of this malformation than had affected fathers. The frequency of cleft lip with or without cleft palate was 6.05% in sibs of patients with cleft lip and palate, but only 3.47% in sibs of patients with isolated cleft lip. Consanguineous marriages were more frequent in this material than in the general population. Other congenital malformations were not observed more often in relatives of index patients than in the general population. Cleft lip with or without cleft palate meets the rules of polygenic inheritance. The incidence of posterior cleft palate was 2.48% in sibs, 0.41% in uncles/aunts and 0.48% in first cousins of index patients with posterior cleft palate. The aetiology of this malformation is presently not clear.

ISSN:0001-5652    

DOI:10.1159/000152518

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

The incidence of cleft lip and palate was studied in six maternity clinics in Northern Sweden for the period 1958–1970. By comparisons of the records at the maternity clinics and the local Cleft Palate Center, it was found that about 5% of the cleft defects were missed in the registration of newborns. The incidence of isolated cleft palate was significantly higher in Northern Sweden compared to that in Central and South Sweden, while there was no significant regional difference for cleft lip with or without cleft palat

ISSN:0001-5652    

DOI:10.1159/000152519

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

One of the female members of a family with hereditary D/D-translocation chromosome was found to be mosaic for two major cell lines. One of her cell lines was consistent with balanced D/D-translocation, i.e., 45, XX, D–D–, t (DqDq). Her other cell line had each cell with 46chromosomes. In these cells, however, a normal D-chromosome was replaced by a telocentric ‘marker’ chromosome with comparable size of the long arm of a D-chromosome. The mosaic carrier has transmitted this ‘marker’ chromosome to her son. It is interpreted that during the embryonic life of the female carrier, one of the cells with the translocation D/D-chromosome underwent centric misdivision that was followed by a pericentric inversion in one of the telocentrics. These two processes apparently gave to a stable telocentric D-chromosome and a regular D-group

ISSN:0001-5652    

DOI:10.1159/000152520

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A morphological characterization of the Habbanite community in Israel included about 25 anthropometric measurements and some 10 observations for 239 males and 267 females. The Habbanites can be described as rather short in stature, hyperbrachycephalic with long but narrow facial features. Heights and weights estimates of 275 Habbanite boys and girls, 6–17 years of age, are much lower than those of British or US children (below the 3rd percentile), and also lower than those of children from various other ethnic groups in Israel. The coefficient of variations for metric characteristics is not different between the sexes. Uniformity of type is also reflected in traits such as hair and eye color. Determination of taste thresholds for phenylthiocarbamide (PTC) indicates solutions No. 9 and 10 as the mode for tasters. The percentage of non-tasters is not very low (19.75%). Only two males had defects in color vision; both their mothers were not from Habban. The Habbanites’ physical features do not resemble those of the populations surrounding them or among whom they have been dwelling for several hundred years. It is claimed that on the basis of these results, together with the serological and dermatoglyphic data, the Habbanites can be regarded as a true genetic isol

ISSN:0001-5652    

DOI:10.1159/000152521

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

In 1964, a lower frequency was found of phenylthiocarbamide (PTC) non-tasters among patients with primary angle-closure glaucoma than in a corresponding control group. In view of the high pre valence in Greenland of this disease, which is associated with a shallow ocular anterior chamber, it was decided to study the correlation between anterior chamber depth (ACD) and PTC taste sensitivity in the Greenland population. A sorting technique was used to test a sample of 342 Greenlanders living in Umanaq (85% of the population aged 15–69 years). The percentage of non-tasters among 129 not closely related individuals was found to be 53.5; the estimated frequency of the recessive non-taster gene, 0.731, is among the highest frequencies in the world. Among the 342 persons tested, no correlation was found between ACD and the PTC taste sensitivit

ISSN:0001-5652    

DOI:10.1159/000152522

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A study of ability to taste PTC was made on two groups of Tibetans representing Eastern and Central Tibet, and on an allied Mongoloid group, namely Ladakhis, inhabiting the northern outskirts of India bordering the western frontiers of Tibet. Noteworthy varia tions were observed in the frequency of the non-taster allele in the populations under study, reflecting the pattern of variation within the Tibetan racial complex. Frequencies of the non-taster gene reported in various Mongoloid populations are discussed and a general trend of variation within the Mongoloid ethnic complex hypothesised.

ISSN:0001-5652    

DOI:10.1159/000152523

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

PTC taste sensitivity in patients with toxic diffuse goitre shows a bimodal distribution as in normal persons. Compared with controls, a significant deficiency of extreme tasters andan overweight of medium tasters was demonstrated in toxic diffusegoitre.

ISSN:0001-5652    

DOI:10.1159/000152524

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A group consisting of 153 elderly patients with arteriosclerotic vascular diseases was investigated for C3 phenotypes by means of high-voltage starch gel electrophoresis, and the C3 type distribution was compared to the distribution in a group consisting of 758 young Danish persons involved in paternity cases. A preponderance of C31 genes and a deficiency of C32 genes were found among the old arteriosclerotic patients. The difference between the two samples is statistically significant. The probability of the difference being due to chance is less than 1 in 1,000.

ISSN:0001-5652    

DOI:10.1159/000152525

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

Placental alkaline phosphatase phenotypes were studied in extracts of chori onic tissue from spontaneous and induced abortions. In the series of spontaneous abortions the frequency of the Plf1 gene and of phenotypes having the F1 factor was significantly higher than in the series of induced abortions and in the birth population. The over-representation of the F1 factor was more pronounced in abortions after the 12th week of pregnancy. These results suggest that there exists a pre-natal selection against the Plf1 gene.

ISSN:0001-5652    

DOI:10.1159/000152526

出版商:S. Karger AG    

年代:1972

数据来源: Karger

摘要:

A population and family investigation of the genetic polymorphism of the third component of complement (C’3) of human serum was performed. More than 90% of Finnish Lapps have the 2–2 phenotype. Frequency estimates of 0.05 and 0.95 for C’31 and C’32, respectively, were obtained in this population. None of the rare variants was found. The distribution of C’3 genes differed significantly from the C’3 distribution in a non-Lappish Norwegian population studied previously. The analysis of the C’3 phenotypes in 79 Lappish families, with a total of 239 children, supports the hypothesis that C’31 and C’32 are alleles at on

ISSN:0001-5652    

DOI:10.1159/000152527

出版商:S. Karger AG    

年代:1972

数据来源: Karger