Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21

Journal Article · Sat Feb 01 04:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:6913734

Ho, M F; Monaco, A P ^[1]; Blonden, L A.J.; Ommen, G J.B. van ^[2]; Affara, N A; Ferguson-Smith, M A ^[3]; Lehrach, H ^[4]

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1. Imperial Cancer Research Fund, Oxford (United States)
2. Sylvius Labs., Leiden (Netherlands)
3. Univ. of Cambridge, MA (United States)
4. Imperial Cancer Research Fund, London (United Kingdom)

McLeod syndrome characterized by acanthocytosis and the absence of a red-blood-cell Kell antigen (Kx), is a multisystem disorder involving a late-onset myopathy, splenomegaly, and neurological defects. The locus for this syndrome has been mapped, by deletion analysis, to a region between the loci for Duchenne muscular dystrophy (DMD) and chronic granulomatous disease (CGD). In this study, the authors describe a new marker, 3BH/R 0.3 (DXS 709), isolated by cloning the deletion breakpoint of a DMD patient. A long-range restriction map of Xp21, encompassing the gene loci for McLeod and CGD, was constructed, and multiple CpG islands were found clustered in a 700-kb region. Using the new marker, they have limited the McLeod syndrome critical region to 150-380-kb. Within this interval, two CpG-rich islands which may represent candidate sites for the McLeod gene were identified.

• OSTI ID: 6913734
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 50:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MARKERS
BODY
CHROMOSOMES
DISEASES
DNA SEQUENCING
ETIOLOGY
GENES
GENETIC MAPPING
HEMATOPOIETIC SYSTEM
HEREDITARY DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
MAPPING
STRUCTURAL CHEMICAL ANALYSIS
X CHROMOSOME