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Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

作者信息

Richards R I, Shen Y, Holman K, Kozman H, Hyland V J, Mulley J C, Sutherland G R

机构信息

Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, North Adelaide, South Australia.

出版信息

Am J Hum Genet. 1991 Jun;48(6):1051-7.

PMID:2035525
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683096/
Abstract

We describe two highly polymorphic microsatellite AC repeat sequences, VK23AC and VK14AC, which are closely linked to the fragile X at Xq27.3. Both VK23AC (DXS297) and VK14AC (DXS292) are proximal to the fragile site. Two-point linkage analysis in 31 fragile X families gave (a) a recombination frequency of 1% (range 0.00%-4%) with a maximum lod score of 32.04 for DXS297 and (b) a recombination frequency of 7% (range of 3%-15%) with a maximum lod score of 12.87 for DXS292. Both of these polymorphisms are applicable to diagnosis by linkage in families with fragile X syndrome. A multipoint linkage map of genetic markers at Xq27.3 was constructed from genotyping these polymorphisms in the CEPH pedigrees. The DXS292 marker is in the DXS98-DXS297 interval and in 3 cM proximal to DXS297.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3733/1683096/9e3f07f87a21/ajhg00090-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3733/1683096/9e3f07f87a21/ajhg00090-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3733/1683096/9e3f07f87a21/ajhg00090-0039-a.jpg

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1
Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.
Am J Hum Genet. 1991 Jun;48(6):1051-7.
2
Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.脆性X综合征：通过两个紧邻脆性位点的微卫星重复序列FRAXAC1和FRAXAC2的连锁图谱进行基因定位。
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A linkage map of microsatellite markers on the human X chromosome.人类X染色体上微卫星标记的连锁图谱。
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Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome.在正常家庭和患有脆性X综合征的家庭中使用多个DNA多态性标记进行连锁分析。
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Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.相对于位于Xq27.3的脆性X综合征基因座的DNA片段的遗传定位。
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Genetic mapping of new RFLPs at Xq27-q28.Xq27-q28区域新限制性片段长度多态性的基因定位
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引用本文的文献

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Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.脆性X综合征植入前基因诊断中，鉴定距离FMR1 CGG重复序列小于1 Mb的微卫星标记，并开发用于该诊断的高多态性标记单管十四重PCR检测板。
Genet Med. 2016 Sep;18(9):869-75. doi: 10.1038/gim.2015.185. Epub 2016 Jan 7.
2
Molecular carrier testing for the fragile X syndrome: Issues for genetic counselors.脆性X综合征的分子载体检测：遗传咨询师面临的问题。
J Genet Couns. 1994 Sep;3(3):233-44. doi: 10.1007/BF01412229.
3

本文引用的文献

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Report of the Committee on Methods of Linkage Analysis and Reporting.连锁分析与报告方法委员会报告
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Sequence variation within the fragile X locus.脆性X位点内的序列变异。
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X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.与Xq25-q26区域重复相关的X连锁隐性全垂体功能减退症。
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Linkage mapping of a severe X-linked mental retardation syndrome.一种严重的X连锁智力发育迟缓综合征的连锁图谱分析
Am J Hum Genet. 1993 Jun;52(6):1046-52.
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Molecular analysis of a ring chromosome X in a family with fragile X syndrome.一个患有脆性X综合征的家族中X染色体环状染色体的分子分析。
Hum Genet. 1993 Oct;92(4):373-8. doi: 10.1007/BF01247338.
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An STS at the D16S290 locus.位于D16S290基因座的一个短串联重复序列（STS）。
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10
Dinucleotide repeat polymorphism at the D16S288 locus.D16S288位点的二核苷酸重复多态性
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通过多重DNA扩增对杜氏肌营养不良基因座进行缺失筛查。
Nucleic Acids Res. 1988 Dec 9;16(23):11141-56. doi: 10.1093/nar/16.23.11141.
4
Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.利用两个侧翼多态性DNA标记对脆性X智力低下综合征进行基因分析。
Proc Natl Acad Sci U S A. 1986 Feb;83(4):1016-20. doi: 10.1073/pnas.83.4.1016.
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Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.可通过聚合酶链反应进行分型的大量人类DNA多态性类别。
Am J Hum Genet. 1989 Mar;44(3):388-96.
6
Linkage between the fragile X and F9, DXS52 (St14), DXS98 (4D-8) and DXS105 (cX55.7).脆性X染色体与F9、DXS52（St14）、DXS98（4D-8）和DXS105（cX55.7）之间的连锁关系。
Am J Med Genet. 1988 May-Jun;30(1-2):567-80. doi: 10.1002/ajmg.1320300158.
7
The X chromosome shows less genetic variation at restriction sites than the autosomes.X染色体在限制性酶切位点处的遗传变异比常染色体少。
Am J Hum Genet. 1986 Oct;39(4):438-51.
8
Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X.将匿名DNA探针定位到人类16号和X染色体的特定区间
Hum Genet. 1989 Aug;83(1):61-6. doi: 10.1007/BF00274150.
9
A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.通过体外扩增心肌肌动蛋白基因内的二核苷酸重复序列揭示的一个高变微卫星。
Am J Hum Genet. 1989 Mar;44(3):397-401.
10
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.利用一组细胞系对脆性X突变（FRAXA）附近的新型DNA探针进行物理图谱绘制。
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