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标记X染色体的杂合子女性携带者:脆性X染色体(q)的智商估计及复制状态

Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

作者信息

Paul J, Froster-Iskenius U, Moje W, Schwinger E

出版信息

Hum Genet. 1984;66(4):344-6. doi: 10.1007/BF00287638.

DOI:10.1007/BF00287638
PMID:6586635
Abstract

The IQ levels of 18 female carriers with the marker X chromosome were evaluated, and cytogenetic studies after BrdU incorporation were performed. A highly significant correlation between mental capacity and replication pattern of the X chromosomes could be demonstrated. Heterozygous females with normal intelligence showed a clear tendency to carry the fragile site at the late replicating X chromosome, while other female carriers with lower intelligence or mental impairment expressed their fragile site mainly with the early replicating X chromosome. This observation could be interpreted as an expression of Lyonisation .

摘要

对18名携带标记X染色体的女性携带者的智商水平进行了评估,并在掺入BrdU后进行了细胞遗传学研究。结果表明,智力水平与X染色体的复制模式之间存在高度显著的相关性。智力正常的杂合女性明显倾向于在晚复制的X染色体上携带脆性位点,而其他智力较低或有精神障碍的女性携带者则主要在早复制的X染色体上表达其脆性位点。这一观察结果可解释为莱昂化的一种表现。

相似文献

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Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).标记X染色体的杂合子女性携带者:脆性X染色体(q)的智商估计及复制状态
Hum Genet. 1984;66(4):344-6. doi: 10.1007/BF00287638.
2
Fra(X) frequency on the active X-chromosome and phenotype in heterozygous carriers of the fra(X) form of mental retardation.脆性X智力低下综合征(Fra(X))在活性X染色体上的频率及Fra(X)型智力低下杂合携带者的表型。
Am J Med Genet. 1988 May-Jun;30(1-2):407-15. doi: 10.1002/ajmg.1320300141.
3
Inactivation pattern of the fragile X in heterozygous carriers.脆性X基因在杂合子携带者中的失活模式。
Am J Med Genet. 1988 May-Jun;30(1-2):401-6. doi: 10.1002/ajmg.1320300140.
4
Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotes.脆性X连锁智力迟钝。II. 杂合子中脆性X(q28)的频率和复制模式。
Am J Hum Genet. 1984 May;36(3):640-5.
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Inactivation pattern of the fragile X in heterozygous carriers.杂合子携带者中脆性X的失活模式。
Hum Genet. 1984;65(4):400-1. doi: 10.1007/BF00291567.
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Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.脆性X综合征的携带者检测与X染色体失活研究。对63名脆性X综合征的确定携带者和潜在携带者进行细胞遗传学研究。
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The inactivation of the fragile X chromosome in female carriers of the Martin Bell syndrome as studied by two different methods.通过两种不同方法对马丁-贝尔综合征女性携带者中脆性X染色体失活的研究。
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Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.三名杂合子女性中脆性X染色体fra(X)(q27)的复制状态。
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Additional evidence for fragile X activity in heterozygous carriers.杂合子携带者中脆性X活性的更多证据。
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Expression of the fragile site Xq27 in fibroblasts. II. Evidence for negative and positive clones from heterozygous females and possible relationship between frequency and phenotype.成纤维细胞中脆性位点Xq27的表达。II. 杂合女性中阴性和阳性克隆的证据以及频率与表型之间的可能关系。
Hum Genet. 1983;64(3):279-82. doi: 10.1007/BF00279411.

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Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.未受影响男性传递标记X综合征性状:来自大家庭研究的结论

本文引用的文献

1
X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.伴有脆性X的X连锁智力障碍。一个系谱显示由表面上未受影响的男性进行传递,以及在女性携带者中的部分表达。
Hum Genet. 1981;59(1):23-5. doi: 10.1007/BF00278849.
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X-linked mental retardation: a study of 7 families.X连锁智力迟钝:对7个家族的研究
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Replication pattern in XXY cells with fra(X).具有脆性X染色体的XXY细胞中的复制模式。
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Verification of Lyon's hypothesis in fragile X carriers.对脆性X携带者中莱昂假说的验证。
Hum Genet. 1984;68(4):346-7. doi: 10.1007/BF00292599.
5
Manifestation of the fragile site Xq27 in fibroblasts. IV. Clones from a heterozygous female do not manifest this site homogeneously on either the early or late replicating X chromosome.成纤维细胞中脆性位点Xq27的表现。IV. 来自杂合女性的克隆在早期或晚期复制的X染色体上均未均匀显示该位点。
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Unaffected carrier males in families with fragile X syndrome.患有脆性X综合征的家族中未受影响的男性携带者
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Recurrent mutation pressure does not explain the prevalence of the marker (X) syndrome.复发性突变压力并不能解释标记(X)综合征的流行情况。
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Fragile X syndrome: clinical, cytogenetic, biochemical and molecular features.脆性X综合征:临床、细胞遗传学、生物化学及分子特征
Indian J Pediatr. 1986 Jul-Aug;53(4):451-9. doi: 10.1007/BF02749526.
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Replication status of fragile X(q27.3) in 13 female heterozygotes.13名女性杂合子中脆性X(q27.3)的复制状态。
J Med Genet. 1986 Oct;23(5):407-10. doi: 10.1136/jmg.23.5.407.
10
Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.日本收容机构中智力迟钝女性的脆性X综合征发病率
Hum Genet. 1987 Aug;76(4):344-7. doi: 10.1007/BF00272442.
Hum Genet. 1982;60(3):278-80. doi: 10.1007/BF00303019.
4
Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.三名杂合子女性中脆性X染色体fra(X)(q27)的复制状态。
Hum Genet. 1982;62(3):282-4. doi: 10.1007/BF00333538.
5
Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.脆性X连锁智力障碍。对65例病因不明的智力障碍患者的调查。
Am J Dis Child. 1982 May;136(5):392-8.
6
Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.一个家系中存在脆性(X)(q27)位点,家系中的女性携带者表现出轻度至重度智力发育迟缓。
J Med Genet. 1982 Feb;19(1):44-8. doi: 10.1136/jmg.19.1.44.
7
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.
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X-linked mental retardation with macro-orchidism and marker-X chromosomes.伴有巨睾症和标记X染色体的X连锁智力障碍
Am J Med Genet. 1980;7(4):433-41. doi: 10.1002/ajmg.1320070405.
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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.
10
Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.脆性X综合征的携带者检测与X染色体失活研究。对63名脆性X综合征的确定携带者和潜在携带者进行细胞遗传学研究。
Hum Genet. 1983;64(3):240-5. doi: 10.1007/BF00279401.