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Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.

作者信息

Howell R T

机构信息

South Western Regional Cytogenetics Centre, Southmead Hospital, Bristol.

出版信息

J Med Genet. 1991 Jul;28(7):468-71. doi: 10.1136/jmg.28.7.468.

DOI:10.1136/jmg.28.7.468
PMID:1910092
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016957/
Abstract

Evaluation of chromatid aberrations induced in culture by DNA cross linking agents provides the most reliable method currently available for the diagnosis and exclusion of Fanconi's anaemia. However, at appropriate concentrations of clastogenic agent the aberration frequency in an unaffected subject may be very low and thus it may be difficult to confirm that the treatment was effective. Data are presented to show that sister chromatid exchange analysis can be used to monitor the effectiveness of the clastogen treatment and thereby increase the reliability and efficiency of the assay.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7921/1016957/668ddc09df02/jmedgene00033-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7921/1016957/668ddc09df02/jmedgene00033-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7921/1016957/668ddc09df02/jmedgene00033-0040-a.jpg

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Sister chromatid exchange evaluation as an aid to the diagnosis and exclusion of Fanconi's anaemia by induced chromosome damage analysis.
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2
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Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia.烷化剂诱导范可尼贫血患者的姐妹染色单体交换和染色单体断裂
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本文引用的文献

1
Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method.通过细胞遗传学方法对范可尼贫血进行产前和产后诊断及携带者检测。
Pediatrics. 1981 Jan;67(1):128-35.
2
The cell cycle of lymphocytes in Fanconi anemia.范可尼贫血中淋巴细胞的细胞周期
Hum Genet. 1982;62(4):327-32. doi: 10.1007/BF00304549.
3
Mitomycin C induced chromosome damage in fetal blood cultures and prenatal diagnosis of Fanconi's anaemia.
Prenat Diagn. 1984 May-Jun;4(3):217-21. doi: 10.1002/pd.1970040310.
4
Clinical and cytogenetic diversity in Fanconi's anaemia.范可尼贫血的临床和细胞遗传学多样性
J Med Genet. 1984 Jun;21(3):197-203. doi: 10.1136/jmg.21.3.197.
5
Chromosome abnormalities in constitutional aplastic anemia.先天性再生障碍性贫血中的染色体异常
N Engl J Med. 1966 Jan 6;274(1):8-14. doi: 10.1056/NEJM196601062740102.
6
Fanconi's anaemia in the genetics of neoplasia.肿瘤遗传学中的范科尼贫血
Nature. 1971 Apr 9;230(5293):370-3. doi: 10.1038/230370a0.
7
A high susceptibility of Fanconi's anemia to chromosome breakage by DNA cross-linking agents.范科尼贫血对DNA交联剂导致染色体断裂高度敏感。
Cancer Res. 1973 Aug;33(8):1829-36.
8
Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.致断裂剂诱导的染色体断裂作为范可尼贫血孕早期产前诊断的标志物。
Hum Genet. 1986 May;73(1):86-8. doi: 10.1007/BF00292671.
9
International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity.国际范可尼贫血登记处：临床症状与二环氧丁烷敏感性的关系。
Blood. 1989 Feb;73(2):391-6.
10
Induction by alkylating agents of sister chromatid exchanges and chromatid breaks in Fanconi's anemia.烷化剂诱导范可尼贫血患者的姐妹染色单体交换和染色单体断裂
Proc Natl Acad Sci U S A. 1975 Oct;72(10):4066-70. doi: 10.1073/pnas.72.10.4066.