X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

A E Lehesjoki; E M Sankila; J Miao; M Somer; R Salonen; J Rapola; A de la Chapelle

doi:10.1136/jmg.27.5.288

X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28

J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288.

Authors

A E Lehesjoki¹, E M Sankila, J Miao, M Somer, R Salonen, J Rapola, A de la Chapelle

Affiliation

¹ Department of Medical Genetics, University of Helsinki, Finland.

Abstract

A three generation family with X linked myotubular myopathy (MTM1) was studied with several polymorphic markers from the distal long arm of the X chromosome. A recombination between the disease gene and four markers (loci DXS52, DXS134, DXS15, F8C) from the Xq28 cluster was detected. A new polymorphic marker (U6.2) defining the locus DXS304 in the Xq27-28 region proximal to the Xq28 cluster did not show any recombination with MTM1. These results suggest the following order of loci in distal Xq: cen-DXS42-DXS105-(DXS304, MTM1)-(DXS52, DXS134, DXS15, F8C)-tel.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cell Nucleus / ultrastructure*
Chromosome Aberrations*
DNA / analysis*
Genetic Linkage*
Genetic Markers / analysis
Humans
Infant, Newborn
Male
Multigene Family
Muscular Atrophy / genetics*
Muscular Atrophy / pathology
Pedigree
Polymorphism, Restriction Fragment Length
Recombination, Genetic
X Chromosome*

Substances

Genetic Markers
DNA