摘要:

The genetic locus of human transcobalamin II (TC2) is not yet known. The mouse transcobalamin II gene has been assigned to mouse chromosome 11, linked to hemoglobin A. This fact suggested a similar linkage of transcobalamin II in man, assigning it thus to human chromosome 16.Our linkage investigation in a family material of more than 600 individuals demonstrated absence of linkage between transcobalamin II and phosphoglycolate phosphatase, which is very closely linked to hemoglobin A on chromosome 16. Additionally we confirmed absence of linkage with the chromosome 16 gene marker system haptoglobin. These two gene marker systems are located far from each other, and the total length of chromosome 16 is estimated only about 100 cM. Together with recent results of investigations in somatic mouse‐man cell hybrids, we conclude thatTC2is not located on chromosome 16.Additionally we found absence of linkage between transcobalamin II and 6‐phosphoglucona‐te dehydrogenase, rhesus blood group (both on chromosome 1), GC (chromosome 4), Esterase D (chromosome 13) and AG; absence of close linkage with “debrisoquin polymo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00503.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The linkage relationships of transcobalamin II (TC2) against 64 other marker systems are studied in a Danish family material (families 604–1505). A strong indication of linkage between TC2 and the blood group system P was discovered (ž= 7.91 at θ=0.14 for males and θ=0.20 for females combined). Accordingly, TC2 could be assigned to chromosome 22 (since blood group P has earlier been assigned to this chromos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00504.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Deficiency in the lysosomal enzyme responsible for cholesteryl ester hydrolysis, acid cholesteryl ester hydrolase (E.C. 3.1.1.13), leads to two clinically recognized diseases: Wolman disease and cholesteryl ester storage disease (CESD). The enzyme defect in these diseases has been detected in all the tissues studied including leukocytes, fibroblasts and liver. Analysis of urinary sediment from well characterized cases of Wolman disease and CESD also revealed the shedding of lipid enriched renal tubular cells. Morphologic, enzymic and lipid compositional studies of these cells indicate that the enzyme deficiency observed in fibroblasts and leukocytes from these individuals are reflected in these cells shed in the urine. These findings in renal tubular cells confirm and extend those made in other cell types. These studies indicate that analysis of urinary sediment in suspected cases of acid cholesteryl ester deficiency may provide a meaningful approach for monitoring therapeutic attempts involving enzyme infusion and gene therapy.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00505.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Skin fibroblasts of patients with Duchenne muscular dystrophy were analysed for HLA tissue antigens. For the examination of the antigens two modified methods were used: the microdro‐plet cytotoxicity assay on fibroblast suspension and the cytotoxicity assay on fibroblast monolayer cultures using fTuorochromasia. The HLA determination on the fibroblast suspensions of the patients showed a variety of unspecific HLA expressions which were not found in fibroblasts of healthy controls. These reactions were not apparent in the test in monolayer cultures. The exact cause has not been elucidated yet, but it appears to have a strong relation to some membrane abnormality in cells of DMD patients. The reproducible lack of unspecific reactions on monolayer cultures lead us to propose that these expressions arise from artificial injuries to membranes of these patient cells during trypsination or centrifugation. The validity of this test has been confirmed by a blind stud

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00506.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In a material of 22 Danish, 26 Canadian, 10 Australian, 5 English and 5 American families with at least 2 children affected with cystic fibrosis (CF) a combined positive LOD score of 3.46 was found for the relationship cystic fibrosis‐paraoxonase (PON) at recombination fractionθ=0.07 in males and θ= 0.13 in females. Assuming a three allele model for PON the LOD score was 4.50 at the same recombination fractions. This confirms our earlier finding of an indication of CF‐PON sy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00507.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The use of techniques for the production ofprometaphase chromosomesleading to increased resolution of banding patterns has resulted in problems as well as advantages in their routine use. A simple technique utilising the folate antagonist methotrexate has been in use in this regional diagnostic cytogenetics centre for three years, and a number of chromosome abnormalities have been detected in cases previously reported as normal following G banding studies. With reference to this, the routine analysis of prometaphase‐type chromosomes is discussed and assesse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00508.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A stratified representative sample size of 5,007 Kuwaiti females aged 15 years and above was drawn during 1983 and structurally interviewed to study the influence of consanguineous marriages (up to the second cousin) on reproductive wastage. Losses comprised prenatal deaths (abortions and stillbirths) and neonatal deaths (up to the first month of life). The rate of consanguineous mating in the sample was 54.3% with 95% confidence limits estimated rate 52.9% to 55.7% when projected over the whole Kuwaiti population. First cousin marriages accounted for 30.2% of the sample followed by 22.1 % less than first cousin (first cousin once removed and second cousins) and 2% only double first cousin. The study showed higher prenatal and neonatal losses among consanguineous (14.2%, 2.97%) than nonconsanguineous (13.97%, 2.54%) although not statistically significant. No consistent increase in reproductive wastage was evident as the inbreeding coefficient, F, advances mainly because of decline in the wastage rate among the double first cousin marriages which represents only 2% of our sample.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00509.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

We report the results of our ten‐year experience in the Centre for Study and Conservation of Human Semen (CECOS) in Paris‐Bicetre. A total of 676 potential semen donors were interviewed by a geneticist and karyotyped; 6.0% were excluded, i.e. 2.6% for a cytogenetic reason and 3.4% for a genie reason. Our experience stresses the subjectivity and difficulty of the exclusion decision. It also shows how useful it is to take into account the recipient's familial pathology when choosing the donor. Finally, it reveals the importance of the geneticist's participation in the functioning of a cen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00510.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The accumulation of very long chain fatty acids in plasma and skin fibroblasts was measured in at least four separate inherited disease states. Both the magnitude and the nature of the fatty acid changes reflected the clinical status of individual patients. In Zellweger's syndrome, and to a lesser extent in infantile Refum's disease, there was an increase in 24:0, 26:0, 26:1, and a number of even longer chain fatty acids, while in the X‐linked form of adrenoleukodystrophy these changes were less pronounced.Zellweger fibroblasts in culture took up lignoceric, phytanic and stearic acids and incorporated them into a variety of lipids in a manner comparable to control fibroblasts. However, these cells were unable to convert phytanic or lignoceric acid to CO2. Infantile Refsum's and X‐linked adrenoleukodystrophy fibroblasts showed normal conversion of these acids to CO2. Normal fibroblast homogenates produced radioactive acetate from [1‐14C] stearic and [1‐14C] lignoceric acids indicating that both substrates were β‐oxidised under these conditions. Homogenates of fibroblasts from all patients with biochemical evidence of accumulation of very long chain fatty acids showed normal or near‐normal stearic acid β‐oxidation, but were deficient in lignoceric acid β‐oxidation. Residual lignoceric acid β‐oxidation activity varied from approximately 15% in Zellweger syndrome up to 50% in X‐linked adrenoleukodystrophy.It is postulated that the accumulation of very long chain fatty acids results from defects in peroxisomal β‐oxidation. In Zellweger's syndrome, and possibly in infantile Refsum's disease, it is probable that this defect is secondary to a primary abnormality affecting the structure and/or function of peroxisomes, while the primary defect in X‐linked adrenoleukodystrophy may be confined to a pathway specific for the oxidation of

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00511.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Rates of fetal mortality in sibships of probands with neural tube defects (NTDs) may reflect liability to NTDs. Expectations from the multifactorial model predict that fetal loss should be higher in sibships of male probands; in multiplex sibships; and in sibships where the proband had no additional malformations. This was analysed for 715 pregnancies from 398 sibships. In general, the results did not support the expectations of the multifactorial model.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00512.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY