Fanconi anemia: a statistical evaluation of cytogenetic results obtained from South African families

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• 作者：Pearson ; Thomas ; Jansen ; Stander ; Havenga ; Charmaine ; Stones ; David K. ; Joubert ; Gina
• 刊名：Cancer Genetics and Cytogenetics
• 出版年：2001
• 出版时间：April 1, 2001
• 年：2001
• 卷：126
• 期：1
• 页码：52-55
• 全文大小：42.2 K

文摘

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder showing progressive bone marrow failure, and various phenotypic abnormalities. The lymphocytes show an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin C (MMC), measured as chromosomal aberrations. Statistical analysis of chromosome aberration yield showed that: (i) differentiation between obligate carriers and the control group was not possible; (ii) homozygotes were clearly distinguishable from heterozygotes as well as from controls by analyzing only 20 metaphase spreads per person; (iii) most of the FA patients had only one cell line present as measured by distribution of chromosomal damage among cells analyzed; (iv) and when the DEB sensitivity of a patient was high, the amount of cells without damage was low.