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Elisabeth Leroy Dimitri Anastasopoulos Spiridon Konitsiotis Christian Lavedan M. H. Polymeropoulos 《Human genetics》1998,103(4):424-427
Parkinson’s disease is the second most common neurodegenerative disease after Alzheimer’s disease and is manifested as a
movement disorder. A positive family history is the second most important risk factor for developing the illness, after age.
Both autosomal dominant and recessive forms of the illness have been described. Recently deletions in a novel gene, parkin,
have been associated with the autosomal recessive form of the illness in Japanese families. In this study, we demonstrate
that deletions of exons 5, 6 and 7 of the parkin gene are present in two affected individuals of a Greek pedigree with early
onset Parkinson’s disease. However, no deletions were identified in a different branch of the same pedigree with three affected
individuals. These results suggest that deletions in the parkin gene will be found in other families besides those of Japanese
origin and that there must be at least one additional locus responsible for early onset autosomal recessive Parkinson’s disease.
Received: 9 June 1998 / Accepted: 10 August 1998 相似文献
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Unstable premutation alleles in fragile X contain CGG repeats ranging from 34 to about 200. To study the mechanism of formation
and the behavior of dynamic mutations, we constructed and cloned 88 trinucleotide repeats including 43 uninterrupted CGGs
and injected them into mouse fertilized oocytes. We analyzed 342 transgenic animals obtained from 6 different founders after
one to four generations, and found that the repeats remained stable regardless of the sex of the transmitting mouse. Therefore,
we may need to consider factors other than trinucleotide repeat length alone to explain CGG instability and create an animal
model.
Received: 17 January 1997 / Accepted: 14 April 1997 相似文献
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Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. 总被引:28,自引:8,他引:20
C Lavedan H Hofmann-Radvanyi P Shelbourne J P Rabes C Duros D Savoy I Dehaupas S Luce K Johnson C Junien 《American journal of human genetics》1993,52(5):875-883
Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the disease. However, the clinical status of patients cannot be unambiguously ascertained solely on the basis of the number of CTG repeats. Moreover, the exclusive maternal inheritance of the congenital form remains unexplained. Our observation of differently sized repeats in various DM tissues from the same individual may explain why the size of the mutation observed in lymphocytes does not necessarily correlate with the severity and nature of symptoms. Through a molecular and genetic study of 142 families including 418 DM patients, we have investigated the dynamics of the CTG repeat meiotic instability. A positive correlation between the size of the repeat and the intergenerational enlargement was observed similarly through male and female meioses for < or = 0.5-kb CTG sequences. Beyond 0.5 kb, the intergenerational variation was more important through female meioses, whereas a tendency to compression was observed almost exclusively in male meioses, for > or = 1.5-kb fragments. This implies a size- and sex-dependent meiotic instability. Moreover, segregation analysis supports the hypothesis of a maternal as well as a familial predisposition for the occurrence of the congenital form. Finally, this analysis reveals a significant excess of transmitting grandfathers partially accounted for by increased fertility in affected males. 相似文献
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Christian Lavedan Elisabeth Leroy Anindya Dehejia Stephanie Buchholtz Amalia Dutra Robert L. Nussbaum M. H. Polymeropoulos 《Human genetics》1998,103(1):106-112
We have identified and characterized a new member of the human synuclein gene family, γ-synuclein (SNCG). This gene is composed
of five exons, which encode a 127 amino acid protein that is highly homologous to α-synuclein, which is mutated in some Parkinson’s
disease families, and to β-synuclein. The γ-synuclein gene is localized to chromosome 10q23 and is principally expressed in
the brain, particularly in the substantia nigra. We have determined its genomic sequence, and established conditions for sequence
analysis of each of the exons. The γ-synuclein gene, also known as BCSG1, was recently found to be overexpressed in advanced
infiltrating carcinoma of the breast. Our survey of the EST database indicated that it might also be overexpressed in an ovarian
tumor.
Received: 6 February 1998 / Accepted: 8 April 1998 相似文献
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Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13 总被引:4,自引:0,他引:4
C Lavedan F Barichard M Azoulay P Couillin D Molina Gomez H Nicolas B Quack M O Rethoré B Noel C Junien 《Cytogenetics and cell genetics》1989,50(2-3):70-74
We describe a family in whom the phenotypically normal father carries a balanced insertional translocation, ins(14;11)(q23;p12p14). This individual fathered three mentally retarded children, two with a del(11)(p13) and one with a dup(11)(p13). Two other cases of a de novo del(11)(p13) are also described. All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R). Using an approach combining karyotype analysis, determination of the gene copy number, and RFLP studies employing five 11p13 DNA markers, we were able to define the chromosomal rearrangement involved in each case. Analysis of these WAGR deletions provides further subdivision of band p13 on chromosome 11. 相似文献