Blooms syndrome BS

BS is characterized by:

♦ Growth retardation.

♦ Immunodeficiency.

♦ Early development of cancer.

Cells from BS show cytogenetic abnormalities characterized by an increased number of sister chromatid exchanges and in vitro sensitivity to alkylating agents and ionizing radiation.

The BS gene has been cloned and lies at chromosome 15.q26.1. It encodes a 150 kDa protein that has structural motifs suggesting a function as a DNA helicase (protein essential for DNA replication, recombination, and repair).

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