• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

布卢姆综合征的杂合子携带者在培养的成纤维细胞中表现出自发性微核形成增加。

Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts.

作者信息

Frorath B, Schmidt-Preuss U, Siemers U, Zöllner M, Rüdiger H W

出版信息

Hum Genet. 1984;67(1):52-5. doi: 10.1007/BF00270558.

DOI:10.1007/BF00270558
PMID:6745925
Abstract

Cultured fibroblasts of homozygotes and heterozygotes for Bloom syndrome exhibit an enhanced formation of micronuclei. The number of spontaneously occurring micronuclei permit clear separation of heterozygotes from either normal controls or homozygous patients without overlap between these groups. The observed differences could not be enhanced further by the addition of various mutagens. We conclude from the increased chromosomal damage that heterozygotes for Bloom syndrome may have a higher risk for malignant diseases.

摘要

布卢姆综合征纯合子和杂合子的培养成纤维细胞显示微核形成增加。自发出现的微核数量能够将杂合子与正常对照或纯合患者清晰区分开，这些组之间没有重叠。添加各种诱变剂并不能进一步增强所观察到的差异。我们从染色体损伤增加得出结论，布卢姆综合征杂合子可能患恶性疾病的风险更高。

相似文献

1
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts.布卢姆综合征的杂合子携带者在培养的成纤维细胞中表现出自发性微核形成增加。
Hum Genet. 1984;67(1):52-5. doi: 10.1007/BF00270558.
2
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.布鲁姆综合征杂合子成纤维细胞的功能缺陷作为原发性缺陷的特异性表现。
Am J Hum Genet. 1981 Nov;33(6):928-34.
3
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.布卢姆综合征患者体内染色体不稳定的证据：脱落细胞中微核数量增加。
Hum Genet. 1985;71(3):187-91. doi: 10.1007/BF00284570.
4
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice.布卢姆综合征小鼠的自发和诱导染色体损伤及突变
Mutat Res. 2004 Oct 4;554(1-2):131-7. doi: 10.1016/j.mrfmmm.2004.04.004.
5
Corrective factor of Bloom syndrome: identity and relevance.布卢姆综合征的校正因子：特性与相关性。
Surv Synth Pathol Res. 1984;3(2):112-8. doi: 10.1159/000156919.
6
Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor.在存在布鲁姆校正因子的情况下，诱变剂诱导的布鲁姆综合征中的姐妹染色单体交换率保持不变。
Hum Genet. 1981;58(4):432-3. doi: 10.1007/BF00282831.
7
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.阿什肯纳兹犹太人群体中布卢姆综合征blmAsh突变的携带者频率。
Mol Genet Metab. 1998 Aug;64(4):286-90. doi: 10.1006/mgme.1998.2733.
8
Nuclear structure in normal and Bloom syndrome cells.正常细胞和布卢姆综合征细胞中的核结构。
Proc Natl Acad Sci U S A. 2000 May 9;97(10):5214-9. doi: 10.1073/pnas.090525897.
9
Cytogenetic demonstration of a corrective factor in Bloom's syndrome.
IARC Sci Publ. 1982(39):137-45.
10
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells.回复突变可在布卢姆综合征体细胞中产生表型回复。
Hum Genet. 2001 Feb;108(2):167-73. doi: 10.1007/s004390000447.

引用本文的文献

1
Condensin II interacts with BLM helicase in S phase to maintain genome stability.凝聚素II在S期与BLM解旋酶相互作用以维持基因组稳定性。
Commun Biol. 2025 Mar 25;8(1):492. doi: 10.1038/s42003-025-07916-0.
2
A tri-serine cluster within the topoisomerase IIα-interaction domain of the BLM helicase is required for regulating chromosome breakage in human cells.BLM 解旋酶的拓扑异构酶 IIα 相互作用域内的三丝氨酸簇对于调节人细胞中的染色体断裂是必需的。
Hum Mol Genet. 2018 Apr 1;27(7):1241-1251. doi: 10.1093/hmg/ddy038.
3
The cytogenetics of Bloom's syndrome.

本文引用的文献

1
CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN.人类一种罕见且可能由基因决定的综合征中的染色体断裂
Science. 1965 Apr 23;148(3669):506-7. doi: 10.1126/science.148.3669.506.
2
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts.通过与正常成纤维细胞共培养，布卢姆综合征成纤维细胞中姐妹染色单体交换率降低。
Am J Hum Genet. 1980 Mar;32(2):150-7.
3
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.
布卢姆综合征的细胞遗传学
J Pediatr Neurosci. 2010 Jul;5(2):171-2. doi: 10.4103/1817-1745.76124.
4
RecQ helicases: suppressors of tumorigenesis and premature aging.RecQ解旋酶：肿瘤发生和早衰的抑制因子
Biochem J. 2003 Sep 15;374(Pt 3):577-606. doi: 10.1042/BJ20030491.
5
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.小鼠布鲁姆综合征基因靶向破坏纯合子中的阶段特异性凋亡、发育迟缓及胚胎致死性
Genes Dev. 1998 Nov 1;12(21):3382-93. doi: 10.1101/gad.12.21.3382.
6
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells.布卢姆综合征患者体内染色体不稳定的证据：脱落细胞中微核数量增加。
Hum Genet. 1985;71(3):187-91. doi: 10.1007/BF00284570.
7
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome.布卢姆综合征患者体内突变和体细胞重组增加的证据。
Proc Natl Acad Sci U S A. 1989 Jan;86(2):670-4. doi: 10.1073/pnas.86.2.670.
8
Increased numbers of spontaneous micronuclei in blood lymphocytes and cultures fibroblasts of individuals with familial cutaneous malignant melanoma.家族性皮肤恶性黑色素瘤患者血液淋巴细胞和培养的成纤维细胞中自发微核数量增加。
J Cancer Res Clin Oncol. 1989;115(3):264-8. doi: 10.1007/BF00391700.
布鲁姆综合征杂合子成纤维细胞的功能缺陷作为原发性缺陷的特异性表现。
Am J Hum Genet. 1981 Nov;33(6):928-34.
4
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.通过体细胞杂种证明的范可尼贫血的遗传异质性。
Hum Genet. 1980;56(1):81-4. doi: 10.1007/BF00281573.
5
Cytogenetic demonstration of a corrective factor in Bloom's syndrome.
IARC Sci Publ. 1982(39):137-45.
6
Reassessment of cancer predisposition of Fanconi anemia heterozygotes.范可尼贫血杂合子癌症易感性的重新评估。
J Natl Cancer Inst. 1980 Nov;65(5):863-7.
7
Response of lymphocytes from Fanconi's anemia patients and their heterozygous relatives to 8-methoxy-psoralene in a cloning survival test system.范科尼贫血患者及其杂合子亲属的淋巴细胞在克隆存活测试系统中对8-甲氧基补骨脂素的反应。
Hum Genet. 1983;64(2):167-72. doi: 10.1007/BF00327118.
8
Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor.在存在布鲁姆校正因子的情况下，诱变剂诱导的布鲁姆综合征中的姐妹染色单体交换率保持不变。
Hum Genet. 1981;58(4):432-3. doi: 10.1007/BF00282831.
9
Genetically determined chromosome instability syndromes.基因决定的染色体不稳定综合征。
Cytogenet Cell Genet. 1982;33(1-2):119-32. doi: 10.1159/000131736.
10
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients.布卢姆综合征。一、首批27例患者的遗传学和临床观察。
Am J Hum Genet. 1969 Mar;21(2):196-227.