摘要:

SummaryAn exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these families a single patient occurred. A study of parents, sibs and children led to the conclusion that the disease of erythropoietic protoporphyria is inherited as an autosomal recessive disorder. The presence of an occasional fluorescent red blood cell combined with normal protoporphyrin levels was observed in half of the children and sibs of patients and one of their parents; this phenomenon is therefore inherited as an autosomal dominant character. From an analysis of the findings in the 91 families we put forward the hypothesis of a 3‐allele syste

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01006.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe parental origin of mitochondria in hydatidiform moles has been investigated by analysis of genetic variants of mtDNA restriction enzyme patterns. In six complete moles the mtDNA was found to be maternal in origin, with no contribution from the sperm mitochondria, while the nuclear genome was shown to be exclusively paternal in five cases. The occurrence of mtDNA variation in the healthy population was investigated using white blood cells and placentae, and the most common variation occurred at the Ava II restriction sites. The variants exhibited by molar mtDNA were the same as those found in material from healthy individuals.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01007.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryChromosome heteromorphisms of parents and their trisomic spontaneous abortions were compared in an attempt to determine the parental origin of 204 single trisomies, including cases of trisomy 3, 4, 9, 13, 14, 15, 16, 21 and 22, nine mosaic trisomies and nine double trisomies. Non‐disjunction at maternal meiosis I was the most likely source of the additional chromosome for all trisomies studied, including the mosaics, and this was the case at all maternal ages. However, trisomy 21 had a significantly increased proportion of paternally derived cases by comparison with all other trisomies. Consideration of the sex ratio in eases of trisomy 21 of known parental origin suggests that there is an excess of males associated with paternal first meiotic division non‐disjunction. The fact that this mechanism of origin is more prevalent in trisomy 21 may well explain why there is an excess of males associated with this abnormality but not with other autosomal trisom

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01008.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryTwo independent approaches have provided an assignment for the factor IX (Haemophilia B) locus to Xq26–qter, the distal region of the X chromosome long arm. Cloned DNA sequences of the gene were hybridized to restriction enzyme digests of DNA prepared from a series of somatic cell hybrids containing different X‐chromosomal regions and alsoin situto prepared metaphase chromoso

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01009.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryA non‐competitive enzyme immunoassay specific forδaminolevulinate dehydrase has been devised and applied to rodent–human hybrid cell lines. Two different conditions have been used, one specific for the human enzyme and the other indicative of both rodent and human enzymes. The ratio of the values obtained under the two conditions was used to discriminate between positive and negative clones. By this method the gene for ALA dehydrase has been assigned to chromoso

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01010.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryMenkes' disease is a rare, genetically determined disturbance of copper metabolism which is transmitted as an X‐linked recessive character. By comparative gene mapping it can be suggested that the most likely localization of the gene for Menkes' disease is on the long arm of the human X chromosome close to band q l3. This regional assignment is supported by the present analysis of the genetic relationship between the Menkes locus, theXglocus, and the centromere in five Danish families. The evidence suggests close linkage between the Menkes locus and the centromere. The most likely value of the recombination fraction is 0·05 and the maximum lod score is above the conventional +3 limit. Linkage analysis of the Menkes locus and theXglocus showed a recombination value of 0·24, but the maximum conditional lod score is 0·28, which is far below the conventional +3 limit. The present study demonstrates a successful application of a chromosomal morphological marker in linkage analysis and carrier detection of a single gene disorder. The close linkage between the gene for Menkes' disease and the centromere region was used to improve the classification of several females in whom the copper uptake into cultured fibroblasts was either inconclusive or not avail

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01011.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe relationships between the variability of 48 morphological traits and the heterozygosity of four blood group loci were studied in 200 Israeli Jewish males of Eastern European origin aged 18–22 years. A definite correlation was observed between the level of heterozygosity and the variability of 17 traits and two indices. Of the latter traits only 10 were chosen for further analysis. Principal component analysis showed that seven of these traits were independent. For six of them, the frequency of modal individuals (average ± 0·67s.d.) in the tetraheterozygous group was the highest, diminishing proportionally with decreasing heterozygosity levels. The degree of heterozygosity also had a significant negative correlation with the coefficient of variation of the morphological characters and was positively associated with the kurtosis values. Only the variability of one of 10 traits showed an opposite trend and a correlation with biochemical homozygosity. The results are discussed in terms of developmental homeosta

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01012.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

摘要:

SummaryThe inbreeding coefficient estimated by the isonymy method is often much larger than the average inbreeding coefficient (FD). One reason commonly stated is that the surnames are polyphyletic in origin in such cases. The purpose of this paper is to examine the relationship between the inbreeding calculated from isonymy and the average inbreeding coefficient. It was found that when the level of inbreeding is low, especially when the random isonymy (Pr) is much larger thanFD, or when the number of surnames is small (which results in a larger value ofPr), isonymy tends to grossly overestimateFD. A small number of surnamesper se(not necessarily due to polyphyletic origin of surnames) will be likely to result in an unduly high estimate of inbreeding. The equations established are illustrated by numerical examples.

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01013.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01014.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY

ISSN:0003-4800    

DOI:10.1111/j.1469-1809.1984.tb01015.x

出版商:Blackwell Publishing Ltd    

年代:1984

数据来源: WILEY