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Literature DB >> 8503449

Negative expansion of the myotonic dystrophy unstable sequence.

D Abeliovich¹, I Lerer, I Pashut-Lavon, E Shmueli, A Raas-Rothschild, M Frydman.

Abstract

We have analyzed the unstable fragment of the myotonic dystrophy (DM) gene in a pregnancy at 50% risk for DM. The affected father in this family had a 3.0-kb expansion of the DM unstable region. The fetus inherited the mutated gene, but with an expansion of 0.5 kb. This case represented a counseling problem in light of the absence of data concerning "negative expansion." Analysis of the DM gene in 17 families with 72 affected individuals revealed four more cases of negative expansions, all of them in paternal transmissions. The possible significance of this finding is discussed.

Entities: Disease Gene

Mesh：

Year: 1993 PMID： 8503449 PMCID： PMC1682287

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

19 in total

1. Genetic risks for children of women with myotonic dystrophy.

Authors: M C Koch; T Grimm; H G Harley; P S Harper
Journal: Am J Hum Genet Date: 1991-06 Impact factor: 11.025

2. RFLP for a DNA clone which maps to 19q13.2-19qter (D19S63).

Authors: J D Brook; H G Harley; S A Rundle; K V Walsh; D J Shaw
Journal: Nucleic Acids Res Date: 1990-08-25 Impact factor: 16.971

3. NcoI and TaqI RFLPs for human M creatine kinase (CKM)

Authors: M B Perryman; J F Hejtmancik; T Ashizawa; R Armstrong; S C Lin; R Roberts; H F Epstein
Journal: Nucleic Acids Res Date: 1988-09-12 Impact factor: 16.971

4. A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy.

Authors: R G Korneluk; H L MacLeod; T W McKeithan; J D Brooks; A E MacKenzie
Journal: Genomics Date: 1989-02 Impact factor: 5.736

5. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors: H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

6. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors: J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

7. Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Authors: C Aslanidis; G Jansen; C Amemiya; G Shutler; M Mahadevan; C Tsilfidis; C Chen; J Alleman; N G Wormskamp; M Vooijs
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

8. Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Authors: P Shelbourne; R Winqvist; E Kunert; J Davies; J Leisti; H Thiele; H Bachmann; J Buxton; B Williamson; K Johnson
Journal: Hum Mol Genet Date: 1992-10 Impact factor: 6.150

9. Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy.

Authors: C Tsilfidis; A E MacKenzie; G Mettler; J Barceló; R G Korneluk
Journal: Nat Genet Date: 1992-06 Impact factor: 38.330

10. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors: J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal: Cell Date: 1992-02-21 Impact factor: 41.582

10 in total

1. Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks.

Authors: Meghan M Slean; Gagan B Panigrahi; Arturo López Castel; August B Pearson; Alan E Tomkinson; Christopher E Pearson
Journal: DNA Repair (Amst) Date: 2016-04-16

2. Anticipation in Swedish families with bipolar affective disorder.

Authors: P O Nylander; C Engström; J Chotai; J Wahlström; R Adolfsson
Journal: J Med Genet Date: 1994-09 Impact factor: 6.318

3. Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

Authors: A Meiner; C Wolf; N Carey; A Okitsu; K Johnson; P Shelbourne; B Kunath; W Sauermann; H Thiele; P Kupferling
Journal: J Med Genet Date: 1995-08 Impact factor: 6.318

4. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

Authors: H G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; B C Hamel; R L Hoppe; C E de Die; C J Höweler; B A van Oost; B Wieringa
Journal: Am J Hum Genet Date: 1993-11 Impact factor: 11.025

5. Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.

Authors: M R Passos-Bueno; A Cerqueira; M Vainzof; S K Marie; M Zatz
Journal: J Med Genet Date: 1995-01 Impact factor: 6.318

6. Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

Authors: G Jansen; P Willems; M Coerwinkel; W Nillesen; H Smeets; L Vits; C Höweler; H Brunner; B Wieringa
Journal: Am J Hum Genet Date: 1994-04 Impact factor: 11.025