摘要:

Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACSII). The α‐galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in the carriers, one showing an α‐galactosidase‐A activity comparable to that of Fabry patients, and another with normal α‐galactosidase‐A activity. This provides evidence of X‐inactivation at theα‐galactosidase‐A locus. Since X‐inactivation occurs at random, a high number of single cells has to be assayed to increase the clinical reliability for carrier detection. The methodology as presented ena

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01874.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Recently it has been argued that the distribution of shared haplotypes in multiplex sibships for HLA‐associated diseases may be an indicator of the disorder's underlying mode of transmission. Specifically, it has been suggested that the presence of multiple disease susceptibility genes and/or loci may be inferred when an inverse relationship between the amount of haplotype sharing and the number of affected sibs is observed in families where neither parent is affected. This claim is evaluated using extensive computer simulations. It is shown that a variety of haplotype sharing patterns are possible, even for the simplest models, and that for a large segment of the parameter space the actual distribution of shared haplotypes is opposite to that predicted. Accordingly, the inference that more than one locus is involved in the etiology of an HLA‐associated non‐Mendelian disease, if based only on the distribution of shared haplotypes in multiplex sibships, is unjust

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01875.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A persistent eruption in light‐exposed areas in two related carriers of X‐linked chronic granulomatous disease is described. This eruption appears to be a separate entity, rather than a variant of cutaneous lupus erythematosus or Jessner's disease. Recognition may enable detection of carrier females prior to the birth of an affected son, so that genetic counselling and antenatal diagnosis can be institu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01876.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

Thirteen patients from three unrelated families were found to have microcephaly, without any neurological or dysmorphic manifestations. Autosomal dominant inheritance is concluded since the trait was transmitted directly in all three families, including one male‐to‐male instance. The recognition of this uncomplicated form of microcephaly as a Mendelian trait further extends its etiological heterogene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01877.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The pattern of inheritance of fasting blood glucose was examined in a Japanese cohort of 500 nuclear families living in Hawaii. A principal component of glucose was defined to improve the ranking of diabetics and individuals receiving treatment (medication and/or diet) for hyperglycemia, thereby allowing as well as possible for inability to determine untreated levels in patients. Results from path and segregation analysis show that family resemblance for glucose is low in this population. The additive variation can be explained by a cultural model of inheritance without introducing intergenerational differences, a maternal‐paternal effect, or even genetic parameters. Heritability is approximately 0.125. Complex segregation analysis provides no convincing evidence for a major gene, with preliminary support based upon leptokurtic outliers in five families disappearing on further analysis by partial truncation. A claim by other workers of a major recessive gene for hyperglycemia may be due to their failure to allow for treatment, skewness, and multifactorial heritability. In future, the search for major loci acting on liability to hyperglycemia should use multiple determinations of fasting glucose or be addressed to more primary and repeatable variables than fasting blood glucos

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01878.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

G‐banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46, XX, t(2;10), 46, XX, t(6;II), 46, XY, t(6;10), 45, XY, t(13;14), 45, XY, t(13;14). 45, XY, t(14;21). Another woman had an abnormal karotype 46, XX/47, XXX and a man had a pericentric inversion of chromosome 1; six other men and two women had pericentric inversions of chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01879.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The diagnosis of cystic fibrosis (CF) homozygotes and heterozygotes and of individuals without the CF gene, based on differences in the thermal stability of acid phosphatase and a‐mannosidase, is reported. The residual activities at 36.5°C and 41.3°C were below 10% of the activity in unheated samples for homozygotes, 4&50% for heterozygotes and above 90% for normals. The intracellular alkaline phosphatase and extracellular β‐hexosaminidase activities after treatment with heparin and gammaglobulin were 500% and 200%, respectively, of the activities without this treatment in CF homozygotes, whereas for heterozygotes and normals the values were the same after treatment as before. Pedigrees of four CF families, covering 2–3 generations, are presented. The possible use of these tests as diagnostic tools is further d

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01880.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

The Prader‐Willi Syndrome (PWS) has frequently been associated with chromosomal anomalies involving the region 15q11‐q12. The first case of this syndrome associated with ade novotranslocation involving chromosomes 11 and 15 is reported. The breakpoints were identified as 11q25 and 15q11 or q12 [45, XX, t(11;15)(q25;q11–12)], resulting in the deletion of 15pter+ 15q11‐q12. Previously reported cases of PWS associated with translocations are reviewed in relation to the “deletion hy

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01881.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A brother and sister born to a Saudi couple showed aging appearance, wrinkled skin over the hands and feet, inelastic skin, prominent veins over the hands, and other musculoskeletal and connective tissue manifestations. Both children were small for their age and had congenital dislocation of the hips. The paper describes the main manifestations and compares them with the previously described two families.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01882.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY

摘要:

A large Indian kindred in which the fragile X chromosome is segregating has been investigated in Cape Town. Eight male hemizygotes and four female heterozygotes were mentally retarded. There is suggestive evidence that one deceased male of reportedly normal intelligence may have been a hemizygote. The existence of the fragile X syndrome in a number of different ethnic groups supports the contention that the gene controlling the phenotype and the fragile site are the same, or at least overlap.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1983.tb01883.x

出版商:Blackwell Publishing Ltd    

年代:1983

数据来源: WILEY