Familial inheritance of a DXS164 deletion mutation from a heterozygous female

J. T. Lanman, Margaret A Pericak-Vance, R. J. Bartlett, J. C. Chen, L. Yamaoka, J. Koh, M. C. Speer, W. Y. Hung, A. D. Roses

Research output: Contribution to journalArticle

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Abstract

Restriction-fragment-length-polymorphism analysis was used to examine a female who is segregating for Duchenne muscular dystrophy (DMD) and a deletion of the DXS164 region of the X chromosome. The segregating female has no prior family history of DMD, and she has two copies of the DXS164 region in her peripheral blood lymphocytes. The following two hypotheses are proposed to explain the coincidence of the DMD phenotype and deletion of the DXS164 region in her offspring: (1) she may be a gonadal mosaic for cells with two normal X chromosomes and cells with one normal X chromosome and an X chromosome with a deletion of the DXS164 region; and (2) she may carry a familial X;autosome translocation in which the DXS164 region is deleted from one X chromosome and translocated to an autosome. The segregation of DMD and the DXS164 deletion in this family illustrates the importance of extended pedigree analysis when DXS164 deletions are used to identify female carriers of the DMD gene.

Original languageEnglish
Pages (from-to)138-144
Number of pages7
JournalAmerican Journal of Human Genetics
Volume41
Issue number2
StatePublished - Jan 1 1987
Externally publishedYes

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Duchenne Muscular Dystrophy
Sequence Deletion
X Chromosome
Pedigree
Restriction Fragment Length Polymorphisms
Lymphocytes
Phenotype
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Lanman, J. T., Pericak-Vance, M. A., Bartlett, R. J., Chen, J. C., Yamaoka, L., Koh, J., ... Roses, A. D. (1987). Familial inheritance of a DXS164 deletion mutation from a heterozygous female. American Journal of Human Genetics, 41(2), 138-144.

Familial inheritance of a DXS164 deletion mutation from a heterozygous female. / Lanman, J. T.; Pericak-Vance, Margaret A; Bartlett, R. J.; Chen, J. C.; Yamaoka, L.; Koh, J.; Speer, M. C.; Hung, W. Y.; Roses, A. D.

In: American Journal of Human Genetics, Vol. 41, No. 2, 01.01.1987, p. 138-144.

Research output: Contribution to journalArticle

Lanman, JT, Pericak-Vance, MA, Bartlett, RJ, Chen, JC, Yamaoka, L, Koh, J, Speer, MC, Hung, WY & Roses, AD 1987, 'Familial inheritance of a DXS164 deletion mutation from a heterozygous female', American Journal of Human Genetics, vol. 41, no. 2, pp. 138-144.
Lanman JT, Pericak-Vance MA, Bartlett RJ, Chen JC, Yamaoka L, Koh J et al. Familial inheritance of a DXS164 deletion mutation from a heterozygous female. American Journal of Human Genetics. 1987 Jan 1;41(2):138-144.
Lanman, J. T. ; Pericak-Vance, Margaret A ; Bartlett, R. J. ; Chen, J. C. ; Yamaoka, L. ; Koh, J. ; Speer, M. C. ; Hung, W. Y. ; Roses, A. D. / Familial inheritance of a DXS164 deletion mutation from a heterozygous female. In: American Journal of Human Genetics. 1987 ; Vol. 41, No. 2. pp. 138-144.
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