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1.
2.
Etiological heterogeneity in Hodgkin's disease: HLA linked and unlinked determinants of susceptibility independent of histological concordance 总被引:2,自引:0,他引:2
Forty-one multiplex families, from published sources and new data from the National Cancer Institute, segregating for Hodgkin's disease and HLA, have been studied. A reanalysis of these data strongly suggests a recessive mode of inheritance for susceptibility to Hodgkin's disease. The HLA haplotype sharing data between affected relatives demonstrate that approximately 60% of cases in multiplex families are due to an HLA-linked susceptibility gene, the remaining 40% being due to other familial factors. The data clearly support the hypothesis of etiological heterogeneity for Hodgkin's disease, with both HLA-linked and HLA-unlinked factors being responsible. Finally, there is an increased concordance of histological types between affected relatives, but this concordance seems independent of HLA sharing. 相似文献
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Fluorescence in situ hybridization (FISH) with α-satellite DNA probes was used to study whole-arm chromosome translocation products in a family in which the propositus was shown to have a monosomy 18p/trisomy 20p imbalance. By this approach, we show that the chromosome 18 α-satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the α-satellite DNA region. We found no evidence to suggest that this split α-satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus. The FISH technique critically demonstrated the involvement of a whole-arm translocation in this case and provided accurate identification of breakpoints, which was not possible with standard banding techniques. © Wiley-Liss, Inc. 相似文献
5.
A. Baxov P. Maroteaux J. Baroov I. Netriov 《American journal of medical genetics. Part A》1994,49(3):263-265
Two sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance. © 1994 Wiley-Liss, Inc. 相似文献
6.
7.
Rainer Pankau Carl-Joachim Partsch Johannes Funda Wolfgang Günther Sippell 《American journal of medical genetics. Part A》1992,43(3):513-516
We report on the hypothalamic-pituitary-gonadal function in 2 male infants with the Smith-Lemli-Opitz (SLO or RSH) syndrome. Both infants had abnormal external genitalia. Basal and LHRH stimulated plasma gonadotropins were normal for age (1 month). Plasma testosterone, androstenedione, and dehydroepiandrosterone sulfate were normal for age and sex. Some forms of congenital adrenal hyperplasia (17,20-desmolase deficiency, 17α-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency) were ruled out by hormonal studies. The endocrinological findings indicate a normal hypothalamic-pituitary-gonadal function and a normal adrenal steroid biosynthesis in these 2 patients. A partial androgen receptor defect causing the genital malformations seems possible in one patient. Whether 5α-reductase deficiency is the cause of the male pseudohermaphroditism in SLO syndrome remains the subject of future studies. © 1992 Wiley-Liss, Inc. 相似文献
8.
P. S. Karnes A. T. Shamban D. R. Olsen M. J. Fazio R. E. Falk 《American journal of medical genetics. Part A》1992,42(1):29-34
Several “progeroid” syndromes have now been identified. The De Barsy syndrome is an autosomal recessive syndrome of dwarfism, mental deficiency, an “aged” appearance at birth, abnormal elastic fibers on skin biopsy, and lax skin, large helices, eye abnormalities, lax joints, hypotonia, and athetoid posturing. We report one case and review 11 cases from the literature. To understand the abnormal appearance of the elastic fibers on biopsy, we performed elastin gene expression studies on fibroblasts cultured from our patient's skin. Molecular hybridization studies revealed reduced elastin mRNA steady-state levels as compared with age matched control individuals. Assuming normal rates of mRNA translation, reduced elastin synthesis would occur. Diminished dermal elastin content could explain the altered cutaneous elasticity, decreased elastic fibers in the skin, and many clinical manifestations of individuals with this condition. 相似文献
9.
Farida Daïkha-Dahmane Françoise Narcy Marc Dommergues Mireille Lacoste Agnes Beziau Marie-Claire Gubler 《Pediatric nephrology (Berlin, Germany)》1997,11(3):267-273
An alteration in cell/matrix interactions is one of the suggested mechanisms leading to cyst formation in polycystic kidney
diseases. Most of these interactions are mediated by β1-integrins, a subfamily of integrin receptors, formed by the association
of the β1-chain with different α-subunits. To date, no study on α-integrin subunit distribution during the early stages of
cyst development has been reported. Using immunofluorescence, we analyzed the distribution of α-integrin subunits (α1, α2,
α3, α5, and α6) and basement membrane proteins in kidneys of fetuses with autosomal dominant (ADPKD) or autosomal recessive
polycystic kidney disease (ARPKD). The distribution was compared with that observed in normal fetal and post-natal kidneys,
and in fetal cystic dysplasia and Meckel syndrome. Marked increase in α1-integrin staining was observed in normal and cystic
collecting duct cells of both polycystic diseases (PKD), compared with normal and cystic controls. The distribution of integrin
subunits α2, α3, and α6 was irregular in cyst epithelial cells of PKD and cystic controls. The increased expression of the
α1-subunit specifically observed in PKD collecting duct cells may be an early consequence of the genetic defect in ARPKD.
In ADPKD it parallels the reported expression of polycystin, the protein product of PKD1. The irregular expression of α2,
α3, and α6 integrin subunits observed in all types of cysts suggests that cell/matrix interactions are altered early and may
participate in the development of cysts, perhaps by contributing to the deregulation of cell survival in cystic diseases.
Received May 28, 1996; received in revised form October 2, 1996; accepted October 25, 1996 相似文献
10.
Tezak Z Prandini P Boscaro M Marin A Devaney J Marino M Fanin M Trevisan CP Park J Tyson W Finkel R Garcia C Angelini C Hoffman EP Pegoraro E 《Human mutation》2003,21(2):103-111
Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2 deficiency. Here, we studied nine patients diagnosed with CMD who showed abnormal white-matter signal at brain MRI and partial deficiency of laminin alpha2 on immunofluorescence of muscle biopsy. We screened the entire 9.5 kb laminin alpha2 mRNA from patient muscle biopsy by direct capillary automated sequencing, single strand conformational polymorphism (SSCP), or denaturing high performance liquid chromatography (DHPLC) of overlapping RT-PCR products followed by direct sequencing of heteroduplexes. We identified laminin alpha2 sequence changes in six of nine CMD patients. Each of the gene changes identified, except one, was novel, including three missense changes and two splice-site mutations. The finding of partial laminin alpha2 deficiency by immunostaining is not specific for laminin alpha2 gene mutation carriers, with only two patients (22%) showing clear causative mutations, and an additional three patients (33%) showing possible mutations. The clinical presentation and disease progression was homogeneous in the laminin alpha2-mutation positive and negative CMD patients. 相似文献