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一个患有脆性X连锁智力迟钝的家族中智力迟钝与脆性位点表达的分离

Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.

作者信息

Voelckel M A, Mattei M G, N'Guyen C, Philip N, Birg F, Mattei J F

机构信息

Centre de Génétique Médicale et INSERM U. 242, Hôpital d'Enfants de la Timone, Marseille, France.

出版信息

Hum Genet. 1988 Dec;80(4):375-8. doi: 10.1007/BF00273654.

DOI:10.1007/BF00273654
PMID:2904402
Abstract

We report an extended family in which two brothers with a fragile X chromosome are mentally retarded while a third brother with the fragile site is both phenotypically and mentally normal. The study of six probes detecting restriction fragment length polymorphisms on either sides of the fragile site Xq27 confirmed that the fragile X regions inherited by these three brothers were identical from DXS102 to the telomere. These data highlight the heterogeneity of the fragile X syndrome, which is discussed in the framework of the different hypotheses previously proposed.

摘要

我们报告了一个大家庭，其中有两条脆性X染色体的两兄弟智力发育迟缓，而有脆性位点的第三个兄弟在表型和智力方面均正常。对检测脆性位点Xq27两侧限制性片段长度多态性的六种探针的研究证实，这三个兄弟所继承的脆性X区域从DXS102到端粒是相同的。这些数据突出了脆性X综合征的异质性，并在先前提出的不同假说框架内进行了讨论。

相似文献

1
Dissociation between mental retardation and fragile site expression in a family with fragile X-linked mental retardation.一个患有脆性X连锁智力迟钝的家族中智力迟钝与脆性位点表达的分离
Hum Genet. 1988 Dec;80(4):375-8. doi: 10.1007/BF00273654.
2
The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.一个大家族中的脆性X综合征。III. 侧翼DNA标记与脆性位点Xq27的连锁研究。
J Med Genet. 1987 Jul;24(7):413-21. doi: 10.1136/jmg.24.7.413.
3
Two brothers with mental retardation discordant for the fragile-X syndrome.
Am J Med Genet. 1990 May;36(1):122-5. doi: 10.1002/ajmg.1320360124.
4
Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.一个X染色体在Xq27 - 28处有脆性位点且无智力发育迟缓的家族研究。
Hum Genet. 1989 Mar;81(4):353-7. doi: 10.1007/BF00283690.
5
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.
6
DNA studies of X-linked mental retardation associated with a fragile site at Xq27.
Am J Med Genet. 1986 Jan-Feb;23(1-2):633-42. doi: 10.1002/ajmg.1320230157.
7
Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study.瑞典北部一郡轻度智力迟钝儿童中的脆性X综合征。一项患病率研究。
Clin Genet. 1983 Dec;24(6):393-8. doi: 10.1111/j.1399-0004.1983.tb00092.x.
8
Linkage and recombination between fragile X-linked mental retardation and the factor IX gene.脆性X连锁智力迟钝基因与凝血因子IX基因之间的连锁和重组
Hum Genet. 1985;69(1):44-6. doi: 10.1007/BF00295528.
9
Linkage analysis of X-linked mental retardation with and without fragile-X using factor IX gene probe.使用凝血因子IX基因探针，对伴有和不伴有脆性X染色体的X连锁智力迟钝进行连锁分析。
Lancet. 1984 Aug 11;2(8398):349. doi: 10.1016/s0140-6736(84)92715-6.
10
The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.多态性标记DXS304位于脆性X位点的5厘摩范围内。
Genomics. 1989 Nov;5(4):797-801. doi: 10.1016/0888-7543(89)90121-3.

引用本文的文献

1
FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.脆性X前突变男性单精子和淋巴细胞中的FMR1 CGG重复序列不稳定性
Am J Hum Genet. 1999 Sep;65(3):680-8. doi: 10.1086/302543.
2
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.在两个因X连锁智力迟钝而确诊的家族中鉴定FRAXE脆性位点。
J Med Genet. 1993 Feb;30(2):97-100. doi: 10.1136/jmg.30.2.97.
3
Apparent regression of the CGG repeat in FMR1 to an allele of normal size.脆性X智力低下基因1（FMR1）中CGG重复序列明显回归为正常大小的等位基因。

本文引用的文献

1
Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.脆性X染色体在淋巴细胞和成纤维细胞培养中的表达：一种新的技术方法。
Hum Genet. 1981;59(2):166-9. doi: 10.1007/BF00293069.
2
The marker (X) syndrome: a cytogenetic and genetic analysis.标记（X）综合征：细胞遗传学与遗传学分析
Ann Hum Genet. 1984 Jan;48(1):21-37. doi: 10.1111/j.1469-1809.1984.tb00830.x.
3
The fragile X chromosome.脆性X染色体
Hum Genet. 1994 Nov;94(5):523-6. doi: 10.1007/BF00211019.
4
Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.一个X染色体在Xq27 - 28处有脆性位点且无智力发育迟缓的家族研究。
Hum Genet. 1989 Mar;81(4):353-7. doi: 10.1007/BF00283690.
5
Identification of two novel cerebrospinal fluid proteins in non specific mental retardation.在非特异性智力迟钝中鉴定出两种新型脑脊液蛋白。
Neurochem Res. 1991 Jan;16(1):23-7. doi: 10.1007/BF00965823.
6
Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.
Hum Genet. 1992 Jan;88(3):335-43. doi: 10.1007/BF00197270.
Int Rev Cytol. 1983;81:107-43. doi: 10.1016/s0074-7696(08)62336-0.
4
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.
Am J Med Genet. 1985 Aug;21(4):709-17. doi: 10.1002/ajmg.1320210413.
5
Analysis of the fragile-X chromosome: localization and detection of the fragile site in high resolution preparations.脆性X染色体分析：高分辨率制片中脆性位点的定位与检测
Hum Genet. 1985;69(3):209-11. doi: 10.1007/BF00293026.
6
Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.马丁-贝尔综合征的智力损害可能由多个基因的相互作用决定：对具有相同X染色体的未受影响男性和受影响男性之间表型差异的简单解释。
Hum Genet. 1986 Mar;72(3):248-52. doi: 10.1007/BF00291888.
7
On the gates of hell and a most unusual gene.在地狱之门与一个极其特别的基因
Am J Med Genet. 1986 Jan-Feb;23(1-2):1-10. doi: 10.1002/ajmg.1320230102.
8
Further segregation analysis of the fragile X syndrome with special reference to transmitting males.脆性X综合征的进一步分离分析，特别涉及传递男性。
Hum Genet. 1985;69(4):289-99. doi: 10.1007/BF00291644.
9
A new genetic model for the fragile X syndrome involving an autosomal suppressor gene--comments on the paper by M.H. Israel.一种涉及常染色体抑制基因的脆性X综合征新遗传模型——对M.H. 伊斯雷尔论文的评论
Am J Med Genet. 1987 Jan;26(1):33-6. doi: 10.1002/ajmg.1320260107.
10
Autosomal suppressor gene for fragile-X: an hypothesis.脆性X染色体的常染色体抑制基因：一种假说。
Am J Med Genet. 1987 Jan;26(1):19-31. doi: 10.1002/ajmg.1320260106.