Characterization of three overlapping deletions causing X-linked lymphoproliferative disease

Journal Article · Thu Apr 01 00:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1169· OSTI ID:6333061

Skare, J; Wu, Bailin; Wyandt, H; Milunsky, A ^[1]; Madan, S; Pulijaal, V; Nitowsky, H ^[2]; Purtilo, D; Grierson, H ^[3]; Haber, D; Wissink, J; Housman, D ^[4]; Nelson, D ^[5]; Sylla, B; Lenoir, G ^[6]; Glaser, J ^[7]; White, B ^[8]; Holden, J ^[9]

---

1. Boston Univ., MA (United States)
2. Albert Einstein College of Medicine, Bronx, NY (United States)
3. Univ. of Nebraska, Omaha (United States)
4. Massachusetts Inst. of Technology, Cambridge (United States)
5. Baylor College, Houston, TX (United States)
6. International Agency for Research on Cancer, Lyon (France)
7. Bronx-Jacobi Hospital, NY (United States)
8. McMaster Univ., Hamilton, Ontario (Canada)
9. Queen's Univ., Kingston, Ontario (Canada)

Blot hybridization was used to find DNA sequences missing in a male who lacked two-thirds of Xq25. The probes were used to discover two additional males with deletions resulting in X-linked lymphoproliferative disease (XLP). All three deletions have a region in common, and DXS739 is within this candidate region. The new deletions were also detectable using chromosome banding, and the smallest removes only one-third of Xq25. XLP is the only consequence of the deletions. 11 refs., 2 figs.

• OSTI ID: 6333061
• Journal Information: Genomics; (United States), Vol. 16:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
DETECTION
HUMAN X CHROMOSOME
LYMPHOCYTES
CELL PROLIFERATION
DISEASES
DNA HYBRIDIZATION
ANIMAL CELLS
BIOLOGICAL MATERIALS
BLOOD
BLOOD CELLS
BODY FLUIDS
CHROMOSOMES
CONNECTIVE TISSUE CELLS
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
LEUKOCYTES
MATERIALS
MUTATIONS
SOMATIC CELLS
X CHROMOSOME
550400* - Genetics