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Literature DB >> 3460961

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

S Kenwrick, V Ionasescu, G Ionasescu, C Searby, A King, M Dubowitz, K E Davies.

Abstract

A family with six males affected by X-linked spastic paraplegia (McKusick No. 31290) is described. The disease was accompanied by mental retardation in all patients (severe in four cases with IQ of 40) and by absence of extensor pollicis longus (in four cases). The following X chromosome DNA probes were used in linkage studies: 782, RC8, 99-6, 754, OTC, L128, pDP34, p43-15, DX13, and St14. The mutation is closely linked to the loci DX13 (DXS15) and St14 (DXS52) (no recombinants in 11 meioses) and therefore localised to the telomeric region of the long arm of the human X chromosome.

Entities: Disease Gene Mutation Species

Mesh：

Substances：
Genetic Markers
DNA

Year: 1986 PMID： 3460961 DOI： 10.1007/BF00401241

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

11 in total

1. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

Authors: G W BRUYN; L N WENT
Journal: J Neurol Sci Date: 1964 Jan-Feb Impact factor: 3.181

2. A sex-linked recessive form of spastic paraplegia.

Authors: A W JOHNSTON; V A McKUSICK
Journal: Am J Hum Genet Date: 1962-03 Impact factor: 11.025

3. Hereditary cerebral palsy; a preliminary report.

Authors: J BLUMEL; E B EVANS; G W EGGERS
Journal: J Pediatr Date: 1957-04 Impact factor: 4.406

4. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

Authors: P N Goodfellow; K E Davies; H H Ropers
Journal: Cytogenet Cell Genet Date: 1985

5. X-linked hereditary spastic paraplegia.

Authors: J F Raggio; T F Thurmon; E E Anderson
Journal: J La State Med Soc Date: 1973-01

6. Two kindreds with a sex-linked recessive form of spastic paraplegia.

Authors: T F Thurmon; B A Walker; C I Scott; M H Abbott
Journal: Birth Defects Orig Artic Ser Date: 1971-02

7. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

Authors: M Zatz; C Penha-Serrano; P A Otto
Journal: J Med Genet Date: 1976-06 Impact factor: 6.318

8. Sex-linked spastic paraplegia.

Authors: H S Baar; A M Gabriel
Journal: Am J Ment Defic Date: 1966-07

9. Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors: P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

10. Strategies for multilocus linkage analysis in humans.

Authors: G M Lathrop; J M Lalouel; C Julier; J Ott
Journal: Proc Natl Acad Sci U S A Date: 1984-06 Impact factor: 11.205

32 in total

Review 1. Hereditary spastic paraparesis: a review of new developments.

Authors: C McDermott; K White; K Bushby; P Shaw
Journal: J Neurol Neurosurg Psychiatry Date: 2000-08 Impact factor: 10.154

2. Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Authors: A M Nordström; M Penttinen; H von Koskull
Journal: Hum Genet Date: 1992-11 Impact factor: 4.132

3. MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

Authors: C Schrander-Stumpel; J Fryns; J J Cassiman; E Legius; A Spaepen; C J Höweler
Journal: J Med Genet Date: 1992-03 Impact factor: 6.318

Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

1. A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

2. A sex-linked recessive form of spastic paraplegia.

3. Hereditary cerebral palsy; a preliminary report.

4. Report of the Committee on the Genetic Constitution of the X and Y Chromosomes.

5. X-linked hereditary spastic paraplegia.

6. Two kindreds with a sex-linked recessive form of spastic paraplegia.

7. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg.

8. Sex-linked spastic paraplegia.

9. Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

10. Strategies for multilocus linkage analysis in humans.

Review 1. Hereditary spastic paraparesis: a review of new developments.

2. Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

3. MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

4. Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

5. Localisation of the MRX3 gene for non-specific X linked mental retardation.

6. Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

Review 7. X linked hydrocephalus and MASA syndrome.

Review 8. Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling.

9. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

Review 10. Diagnosis of genetic disease using recombinant DNA. Supplement.