Linkage studies of X-linked recessive spastic paraplegia using DNA probes - PubMed (original) (raw)

Case Reports

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

S Kenwrick et al. Hum Genet. 1986 Jul.

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.

PubMed Disclaimer

Similar articles

• MASA syndrome: further clinical delineation and chromosomal localisation.
  Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN. Winter RM, et al. Hum Genet. 1989 Jul;82(4):367-70. doi: 10.1007/BF00273999. Hum Genet. 1989. PMID: 2737668
• Etiological heterogeneity in X-linked spastic paraplegia.
  Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. Keppen LD, et al. Am J Hum Genet. 1987 Nov;41(5):933-43. Am J Hum Genet. 1987. PMID: 3479019 Free PMC article.
• The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree.
  Boustany RM, Fleischnick E, Alper CA, Marazita ML, Spence MA, Martin JB, Kolodny EH. Boustany RM, et al. Neurology. 1987 Jun;37(6):910-5. doi: 10.1212/wnl.37.6.910. Neurology. 1987. PMID: 3587641
• The hereditary spastic paraplegias.
  Reid E. Reid E. J Neurol. 1999 Nov;246(11):995-1003. doi: 10.1007/s004150050503. J Neurol. 1999. PMID: 10631629 Review.
• Genetics of childhood disorders: IV. Linkage analysis.
  Pauls D. Pauls D. J Am Acad Child Adolesc Psychiatry. 1999 Jul;38(7):932-4. doi: 10.1097/00004583-199907000-00025. J Am Acad Child Adolesc Psychiatry. 1999. PMID: 10405513 Review. No abstract available.

Cited by

• Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.
  Trask BJ, Massa H, Kenwrick S, Gitschier J. Trask BJ, et al. Am J Hum Genet. 1991 Jan;48(1):1-15. Am J Hum Genet. 1991. PMID: 1985451 Free PMC article.
• Genotype-phenotype correlation in L1 associated diseases.
  Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ. Fransen E, et al. J Med Genet. 1998 May;35(5):399-404. doi: 10.1136/jmg.35.5.399. J Med Genet. 1998. PMID: 9610803 Free PMC article.
• MASA syndrome: further clinical delineation and chromosomal localisation.
  Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN. Winter RM, et al. Hum Genet. 1989 Jul;82(4):367-70. doi: 10.1007/BF00273999. Hum Genet. 1989. PMID: 2737668
• Mapping approaches to gene identification in humans.
  White RL, Lalouel JM, Lathrop GM, Leppert MF, Nakamura Y, O'Connell P. White RL, et al. West J Med. 1987 Oct;147(4):423-7. West J Med. 1987. PMID: 3479870 Free PMC article.
• Alcohol inhibits cell-cell adhesion mediated by human L1.
  Ramanathan R, Wilkemeyer MF, Mittal B, Perides G, Charness ME. Ramanathan R, et al. J Cell Biol. 1996 Apr;133(2):381-90. doi: 10.1083/jcb.133.2.381. J Cell Biol. 1996. PMID: 8609170 Free PMC article.

References

1. 1. Am J Ment Defic. 1966 Jul;71(1):13-8 - PubMed
2. 1. Am J Hum Genet. 1984 Mar;36(2):265-76 - PubMed
3. 1. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6 - PubMed
4. 1. J Med Genet. 1976 Jun;13(3):217-22 - PubMed
5. 1. J La State Med Soc. 1973 Jan;125(1):4-5 - PubMed

Publication types

MeSH terms

Substances