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Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.

作者信息

Brocas H, Bühler E M, Simon P, Malik N J, Vassart G

出版信息

Hum Genet. 1986 Oct;74(2):178-80. doi: 10.1007/BF00282087.

DOI:10.1007/BF00282087
PMID:2876948
Abstract

The thyroglobulin gene has been mapped to chromosome band 8q24 by several investigators. This is the band implicated in the causation of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome II). We have examined a restriction fragment length polymorphism at the thyroglobulin locus in a patient with Langer-Giedion syndrome and 8q deletion in order to: (1) localize the Langer-Giedion deletion more precisely, (2) define the relative map positions of the thyroglobulin gene and the Langer-Giedion locus. The results indicate that the locus of the thyroglobulin gene is intact in the patient with an interstitial deletion of proximal band 8q24.1 which confirms its more distal localization reported earlier by Bergé-Lefranc et al. (1985). It also assigns the critical region for the causation of Langer-Giedion syndrome to the proximal part of band 8q24, viz. 8q24.11----q24.13.

摘要

相似文献

1
Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II.
Hum Genet. 1986 Oct;74(2):178-80. doi: 10.1007/BF00282087.
2
[Langer-Giedion syndrome and deletion in the long arm of chromosome 8].[朗格-吉迪恩综合征与8号染色体长臂缺失]
Genetika. 1987 May;23(5):907-12.
3
Maternal origin of a de novo chromosome 8 deletion in a patient with Langer-Giedion syndrome.一名患有朗格-吉迪恩综合征患者的新发8号染色体缺失的母系起源
Hum Genet. 1989 Jul;82(4):327-9. doi: 10.1007/BF00273991.
4
[Molecular-genetic characteristics of the deleted region of chromosome 8q24.1 in Langer-Giedion and tricho-rhino-phalangeal type I syndromes].[兰格-吉迪恩综合征和I型毛发-鼻-指（趾）综合征中8号染色体q24.1缺失区域的分子遗传学特征]
Genetika. 1996 Jul;32(7):978-84.
5
A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).一个跨越人类8号染色体q24.1上朗格-吉迪恩综合征区域的4兆碱基酵母人工染色体连续克隆系：用于精确定位毛发鼻指综合征和多发性外生骨疣基因（TRPS1和EXT1）的位置。
Genomics. 1995 Sep 1;29(1):87-97. doi: 10.1006/geno.1995.1218.
6
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).遗传性多发性骨软骨瘤基因并不定位于朗格-吉迪恩区域（8q23-q24）。
J Med Genet. 1992 Oct;29(10):713-5. doi: 10.1136/jmg.29.10.713.
7
The critical segment for the Langer-Giedion syndrome: 8q24.11----q24.12.
Ann Genet. 1985;28(4):224-7.
8
Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.一名患有8号染色体间质缺失的女孩，患II型毛发-鼻-指（趾）综合征（朗格-吉迪恩综合征），伴有持续性泄殖腔和梅干腹序列征。
Am J Med Genet. 1992 Dec 1;44(6):790-4. doi: 10.1002/ajmg.1320440614.
9
Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.由于8q23.3 - 24.13间质性缺失导致的伴有严重智力障碍的I型毛发 - 鼻 - 指（趾）综合征
Am J Med Genet. 1989 Jan;32(1):133-5. doi: 10.1002/ajmg.1320320128.
10
Langer-Giedion syndrome with del 8 (q24.13-q24.22).伴有8号染色体缺失（q24.13-q24.22）的朗格-吉迪恩综合征。
Clin Genet. 1987 Jul;32(1):40-5. doi: 10.1111/j.1399-0004.1987.tb03321.x.

引用本文的文献

1
Diagnosis of genetic disease using recombinant DNA. Supplement.使用重组DNA进行遗传病诊断。增刊。
Hum Genet. 1987 Sep;77(1):66-75. doi: 10.1007/BF00284717.
2
Human chromosome 8.人类8号染色体。
J Med Genet. 1988 Nov;25(11):721-31. doi: 10.1136/jmg.25.11.721.
3
Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.
Hum Genet. 1989 May;82(2):199-201. doi: 10.1007/BF00284059.

本文引用的文献

1
Chromosome deletion and multiple cartilaginous exostoses.染色体缺失与多发性骨软骨瘤
Eur J Pediatr. 1980 Mar;133(2):163-6. doi: 10.1007/BF00441586.
2
Cloning of human thyroglobulin complementary DNA.人甲状腺球蛋白互补脱氧核糖核酸的克隆
FEBS Lett. 1982 Jan 25;137(2):189-92. doi: 10.1016/0014-5793(82)80346-3.
3
Langer-Giedion syndrome and deletion of the long arm of chromosome 8. Confirmation of the critical segment to 8q23.朗格-吉迪恩综合征与8号染色体长臂缺失。8q23关键区段的确认。
4
Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome.朗格-吉迪恩综合征中缺失重叠最短区域的分子定义。
Am J Hum Genet. 1991 Dec;49(6):1197-206.
Hum Genet. 1983;64(2):194-5. doi: 10.1007/BF00327126.
4
Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)?朗格-吉迪恩综合征（TRP II综合征）中8号染色体长臂的末端或中间缺失？
Hum Genet. 1983;64(2):163-6. doi: 10.1007/BF00327117.
5
The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature.伴有外生骨疣的毛发-鼻-指综合征（或朗格-吉迪恩综合征）：另外4例无智力发育迟缓的患者及文献复习
Am J Med Genet. 1984 Sep;19(1):81-112. doi: 10.1002/ajmg.1320190110.
6
The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?
Am J Med Genet. 1984 Sep;19(1):113-9. doi: 10.1002/ajmg.1320190111.
7
Prenatal diagnosis of sickle-cell anemia in the first trimester of pregnancy.妊娠早期镰状细胞贫血的产前诊断。
N Engl J Med. 1983 Oct 6;309(14):831-3. doi: 10.1056/NEJM198310063091405.
8
Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele.人类甲状腺球蛋白基因中限制酶切位点多态性异常稀少。一项连锁研究提示缺陷性甲状腺球蛋白等位基因呈常染色体显性遗传。
Hum Genet. 1984;67(3):301-5. doi: 10.1007/BF00291357.
9
Mapping of human thyroglobulin gene on the long arm of chromosome 8 by in situ hybridization.通过原位杂交将人甲状腺球蛋白基因定位在8号染色体长臂上。
Hum Genet. 1985;71(2):163-6. doi: 10.1007/BF00283375.
10
Localization of the thyroglobulin gene by in situ hybridization to human chromosomes.通过原位杂交将甲状腺球蛋白基因定位到人类染色体上。
Hum Genet. 1985;69(1):28-31. doi: 10.1007/BF00295525.