Xp21 contiguous gene syndromes: Deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints

Journal Article · Tue Dec 01 00:00:00 EST 1992 · American Journal of Human Genetics; (United States)

OSTI ID:7063480

McCabe, E R.B.; Towbin, J A ^[1]; Engh, G van den; Trask, B J ^[2]

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1. Baylor College of Medicine, Houston, TX (United States)
2. Lawrence Livermore National Lab., CA (United States)

Bivariate flow karyotyping was used to estimate the deletion sizes for a series of patients with Xp21 contiguous gene syndromes. The deletion estimates were used to develop an approximate scale for the genomic map in Xp21. The bivariate flow karyotype results were compared with clinical and molecular genetic information on the extent of the patients' deletions, and these various types of data were consistent. The resulting map spans >15 Mb, from the telomeric interval between DXS41 (99-6) and DXS68 (1-4) to a position centromeric to the ornithine transcarbamylase locus. The deletion sizing was considered to be accurate to [plus minus]1 Mb. The map provides information on the relative localization of genes and markers within this region. For example, the map suggests that the adrenal hypoplasia congenita and glycerol kinase genes are physically close to each other, are within 1-2 Mb of the telomeric end of the Duchenne muscular dystrophy (DMD) gene, and are nearer to the DMD locus than to the more distal marker DXS28 (C7). Information of this type is useful in developing genomic strategies for positional cloning in Xp21. These investigations demonstrate that the DNA from patients with Xp21 contiguous gene syndromes can be valuable reagents, not only for ordering loci and markers but also for providing an approximate scale to the map of the Xp21 region surrounding DMD. 44 refs., 3 figs.

• DOE Contract Number: W-7405-ENG-48
• OSTI ID: 7063480
• Journal Information: American Journal of Human Genetics; (United States), Vol. 51:6; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN X CHROMOSOME
GENETIC MAPPING
BIOLOGICAL MARKERS
CLONING
DNA
GENES
GLYCEROL
INVESTIGATIONS
KARYOTYPE
MAPS
MUSCLES
NERVOUS SYSTEM DISEASES
ORNITHINE
PATIENTS
REAGENTS
SIZING
ADMINISTRATIVE PROCEDURES
ALCOHOLS
AMINO ACIDS
CARBOXYLIC ACIDS
CHROMOSOMES
DISEASES
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYDROXY COMPOUNDS
MAPPING
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
X CHROMOSOME
550400* - Genetics