人类染色体上的遗传性脆性位点。VIII. 关于叶酸敏感脆性位点的初步群体细胞遗传学数据。
Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.
作者信息
Sutherland G R
出版信息
Am J Hum Genet. 1982 May;34(3):452-8.
Abstract
The incidence of the autosomal folic-acid-sensitive fragile sites in 524 institutionalized retardates (.0095) was found to be significantly higher than in 1,019 unselected neonates (.00098), suggesting that heterozygosity for these fragile sites may not be as harmless as previously thought. When one of the parents of an index case was found to carry the fragile site, that parent was always the mother. The fragile site at Xq27 was not found among the neonates studied, but was present in 1.6% of the institutionalized retarded males examined; if this fragile site occurs in normal males, then it does so rarely. Further cytogenetic studies of fragile sites are required on both normal and abnormal populations.
摘要
在524名收容机构中的智力迟钝者身上发现常染色体叶酸敏感脆性位点的发生率（0.0095）显著高于1019名未经筛选的新生儿（0.00098），这表明这些脆性位点的杂合性可能不像之前认为的那么无害。当一个索引病例的父母一方被发现携带脆性位点时，该方总是母亲。在所研究的新生儿中未发现Xq27处的脆性位点，但在1.6%接受检查的收容机构中的智力迟钝男性身上存在；如果这种脆性位点出现在正常男性身上，那么也是极为罕见的。需要对正常和异常人群进行关于脆性位点的进一步细胞遗传学研究。
相似文献
1
2
Heritable fragile sites on human chromosomes. XII. Population cytogenetics.人类染色体上的遗传性脆性位点。十二。群体细胞遗传学。
Ann Hum Genet. 1985 May;49(2):153-61. doi: 10.1111/j.1469-1809.1985.tb01687.x.
3
Fragile sites on human chromosomes: description and clinical significance.人类染色体上的脆性位点：描述与临床意义
Mayo Clin Proc. 1985 Oct;60(10):690-6. doi: 10.1016/s0025-6196(12)60745-9.
4
Autosomal folate sensitive fragile sites in normal and mentally retarded individuals in Greece.希腊正常人和智力迟钝者中的常染色体叶酸敏感脆性位点
Am J Med Genet. 1991 Feb-Mar;38(2-3):437-9. doi: 10.1002/ajmg.1320380259.
5
6
Population cytogenetics of autosomal fragile sites.常染色体脆性位点的群体细胞遗传学
Clin Genet. 1986 Feb;29(2):96-100. doi: 10.1111/j.1399-0004.1986.tb01229.x.
7
8
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation.马丁 - 贝尔 - 伦彭宁综合征以及患有其他形式家族性智力迟钝的男性体内的“脆性”X染色体。
J Med Genet. 1981 Oct;18(5):366-73. doi: 10.1136/jmg.18.5.366.
9
Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.脆性位点Xq27与智力迟钝。五个家系的杂合子和半合子的临床和细胞遗传学表现
Hum Genet. 1982;60(4):322-7. doi: 10.1007/BF00569212.
10
Heritable fragility at 11q13 and 12q13.11号染色体长臂1区3带和12号染色体长臂1区3带的遗传性脆性
Clin Genet. 1985 Aug;28(2):145-50. doi: 10.1111/j.1399-0004.1985.tb00374.x.
引用本文的文献
1
Reconstruction of a Comprehensive Interactome and Experimental Data Analysis of FRA10AC1 May Provide Insights into Its Biological Role in Health and Disease.重建综合互作组并对 FRA10AC1 的实验数据分析可能为其在健康和疾病中的生物学作用提供新的见解。
Genes (Basel). 2023 Feb 24;14(3):568. doi: 10.3390/genes14030568.
2
Fragile sites, chromosomal lesions, tandem repeats, and disease.脆性位点、染色体病变、串联重复序列与疾病。
Front Genet. 2022 Nov 17;13:985975. doi: 10.3389/fgene.2022.985975. eCollection 2022.
3
New Era of Mapping and Understanding Common Fragile Sites: An Updated Review on Origin of Chromosome Fragility.绘制与理解常见脆性位点的新时代：关于染色体脆性起源的最新综述
Front Genet. 2022 May 20;13:906957. doi: 10.3389/fgene.2022.906957. eCollection 2022.
4
FREQUENCY AND DISTRIBUTION OF CHROMOSOME FRAGILE SITES OR LESIONS IN MALES WITH MENTAL RETARDATION: A DESCRIPTIVE STUDY.智力迟钝男性中染色体脆性位点或损伤的频率与分布：一项描述性研究。
J Tenn Acad Sci. 1998 Jul-Oct;73(3-4):87-99.
5
WWOX: a fragile tumor suppressor.WWOX：一种脆弱的肿瘤抑制因子。
Exp Biol Med (Maywood). 2015 Mar;240(3):296-304. doi: 10.1177/1535370214561590. Epub 2014 Dec 22.
6
Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.对机构收容的智障患者进行临床和细胞遗传学调查，重点关注脆性X综合征。
J Intellect Disabil Res. 1993 Apr;37 ( Pt 2)(Pt 2):131-42. doi: 10.1111/j.1365-2788.1993.tb00580.x.
7
Brief report: low frequency of the fragile X syndrome among Japanese autistic subjects.简短报告：日本自闭症患者中脆性X综合征的低发病率
J Autism Dev Disord. 1993 Mar;23(1):201-9. doi: 10.1007/BF01066429.
8
9
BrdU-sensitive fragile site on long arm of chromosome 16.16号染色体长臂上的BrdU敏感脆性位点。
Am J Hum Genet. 1983 May;35(3):530-3.
本文引用的文献
1
Nonspecific X-linked mental retardation II: the frequency in British Columbia.非特异性X连锁智力迟钝II：不列颠哥伦比亚省的发病率
Am J Med Genet. 1980;7(4):461-9. doi: 10.1002/ajmg.1320070407.
2
Heritable fragile sites on human chromosomes. VI. Characterization of the fragile site at 12q13.人类染色体上的遗传性脆性位点。VI. 12q13处脆性位点的特征描述。
Hum Genet. 1981;57(2):217-9. doi: 10.1007/BF00282028.
3
Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).X连锁智力迟钝与X染色体标记fra(X)(q27)的杂合表达。
N Engl J Med. 1980 Sep 18;303(12):662-4. doi: 10.1056/NEJM198009183031202.
4
Fragile X in a normal male: a cautionary tale.正常男性中的脆性X综合征：一个警示故事。
Lancet. 1981 Apr 4;1(8223):780. doi: 10.1016/s0140-6736(81)92652-0.
5
Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.人类整倍体染色体结构重排与智力发育不全之间的相关性。
Nature. 1974 May 10;249(453):164-5. doi: 10.1038/249164a0.
6
Cytogenetic survey of a hospital for the mentally retarded.一家智障人士医院的细胞遗传学调查。
Hum Genet. 1976 Dec 15;34(3):231-45. doi: 10.1007/BF00295286.
7
A fragile secondary constriction on chromosome 2 in a severely mentally retarded patient.一名重度智力发育迟缓患者2号染色体上的一个脆弱的次缢痕。
J Ment Defic Res. 1977 Sep;21(3):227-39. doi: 10.1111/j.1365-2788.1977.tb00042.x.
8
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.人类染色体上的脆性位点：其对组织培养基类型依赖性的证明
Science. 1977 Jul 15;197(4300):265-6. doi: 10.1126/science.877551.
9
Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.人类染色体上的遗传性脆性位点。III. 在患有X连锁智力障碍的男性及其女性亲属中检测fra(X)(q27)
Hum Genet. 1979;53(1):23-7. doi: 10.1007/BF00289445.
10
Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.人类染色体上的遗传性脆性位点II。分布、表型效应及细胞遗传学
Am J Hum Genet. 1979 Mar;31(2):136-48.
Zotero 插件