摘要:

A search has been conducted in Canada on 222,000 blood samples, for haemoglobin variants detectable electrophoretically. A pattern of Hbs A + J was found in 41, and of these, 23 have been identified as J Baltimore (in 18), J Toronto (in 1), j. Broussais (in 3) and St. Claude (in 1). 12 instances of J Baltimore and one of J Toronto came from English Canadians, while the remainder came from French Canadians. Of those not identified, five were considered to be Jα and 13 Jβ variants. The known distribution and incidence of J Baltimore, and of the Hbs J that have been found in the indigenous populations of the United Kingdom and of France, are reviewe

ISSN:0001-5652    

DOI:10.1159/000152701

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

Electrophoresis of haemolysates from a population in London resulted in the detection of a variant of haemoglobin-A2. Purification and characterisation of the variant globin revealed that this was a further example of haemoglobin A2-NYU.

ISSN:0001-5652    

DOI:10.1159/000152702

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

The investigation of serum samples of 200 unrelated adult Turks revealed the following gene frequencies: Hp1 = 0.265; Hp2 = 0.735. The frequencies are in the range of most of the Asiatic populations.

ISSN:0001-5652    

DOI:10.1159/000152703

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

GPT phenotype determinations were performed in 4,148 unrelated Norwegians. The frequencies of the two common alleles were Gpt1 = 0.537 and Gpt2= 0.461. A total of 13 individuals showed the phenotypic expression of 3 rare GPT alleles, Gpt3, Gpt6, and Gpt7. No heterogeneity in phenotype distribution was found, neither in the two sexes nor regionally in Norway. 97 foreigners involved in paternity cases in Norway showed a phenotype distribution not differing from that of Norwegians. In two small additional samples of Ethiopians and Easter Islanders, Gpt1 frequencies were 0.737 and 0.531, respectively. There were significant differences in phenotype distribution between Norwegians and all African populations tested, some of the Asiatic population, Lapps and a few other populations.

ISSN:0001-5652    

DOI:10.1159/000152704

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

A girl, aged 16 months, with idiopathic hypercalcemia (failure to thrive, characteristic face, supravalvular aortic stenosis) was observed. Her serum calcium level was between 14 and 20 mg/l00 ml. Both her father and brother were mentally retarded and had calcium deposits in their corneae. Their serum calcium values were 11.9 and 13.0 mg/100 ml, respectively, with increased urinary output of calcium. The family history is suggestive of autosomal dominant inheritance of the disease.

ISSN:0001-5652    

DOI:10.1159/000152705

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

Direct karyotyping of tumour cells from three familial and two sporadic cases of retinoblastoma revealed the existence of a Dq– marker chromosome. The hypothesis is launched that a specific region on the long arm of one of the D chromosomes is the site of a locus which is essential for the sustained differentiation of specialized retinal tissue and may be the site of other loci essential for the maturation of other embryonic tissues. Fragility of this region and its potentiality for breakage under the influence of various environmental insults could be the basic cytological event leading to the development of sporadic retinoblastoma. Mutants at these loci, including those of sustained differentiation, could be a less common operational event whereby some variants could enhance the fragility of their respective chromosomal region and thereby explain the genetic transmission of retinoblastoma in certain families. It is common for the critical functional disruption of the locus to precede the deletion which may then be considered the terminal event in the fragile regio

ISSN:0001-5652    

DOI:10.1159/000152706

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S + α-thalassaemia and 7 Hb S with elevated Hb A’2 combinations were found. The β-thalassaemia gene prevalence was 0.0377. Hb A2 was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among ma

ISSN:0001-5652    

DOI:10.1159/000152707

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

An 11-year-old Jewish girl of Turkish extraction with abetalipoproteinaemia was found to be homozygous for haemoglobin Szuhu (β80 Asn → Lys). Except for the abnormal haemoglobin, no other haematological or biochemical abnormalities were found in her consanguineous parents and one sister. In the propositus, erythrocyte morphology showed the acanthocytosis known to be in association with abetalipoproteinaemia. Increased autohaemolysis was also found, which reverted to normal after treatment with vitamin E. This case represents the first reported association of abetalipoproteinaemia with an abnormal haemoglobin, and the first homozygous Hb G-Szu

ISSN:0001-5652    

DOI:10.1159/000152708

出版商:S. Karger AG    

年代:1975

数据来源: Karger

摘要:

944 adenosine deaminase phenotypings of Malay, Chinese, and Indian blood donors and newborns at Kuala Lumpur, Malaysia, yielded ADA1 gene frequency estimates of 0.885 for the Malays, 0.939 for the Chinese, and 0.853 for the Indians.

ISSN:0001-5652    

DOI:10.1159/000152709

出版商:S. Karger AG    

年代:1975

数据来源: Karger