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Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.

作者信息

Serville F, Junien C, Kaplan J C, Gachet M, Cadoux J, Broustet A

出版信息

Hum Genet. 1978 Nov 24;45(1):63-9. doi: 10.1007/BF00277574.

DOI:10.1007/BF00277574
PMID:730182
Abstract

An 8-year-old girl with profound mental retardation and a neurologic syndrome associated with morphologic abnormalities was found to have a supernumerary small submetacentric chromosome. Several members of her family carried a balanced translocation t(12;18)(p12;q11), and the child's karyotype could be explained by 3:1 maternal segregation (tertiary trisomy). The proband was trisomic for 12p13 and 18p. A gene dosage effect was demonstrated for triosephosphate isomerase and glyceraldehyde-3-phosphate in erythrocytes and leukocytes allowing us to assign the corresponding loci to the tip of the chromosome 12 short arm.

摘要

相似文献

1
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.
Hum Genet. 1978 Nov 24;45(1):63-9. doi: 10.1007/BF00277574.
2
Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p.在具有部分12p13和18p三体的人淋巴母细胞系中TPI和G3PD的三重基因剂量效应
Hum Genet. 1979 Jun 19;49(2):221-3. doi: 10.1007/BF00277646.
3
Identification of the origin of a 22p+ chromosome by triplex dosage effect of LDH B, GAPHD, TPI and ENO2.
Ann Genet. 1980;23(2):111-3.
4
12pter to 12p12.2: possible assignment of human triose phosphate isomerase.
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5
[Effect of gene dosage on the glyceraldehyde-3-phosphate dehydrogenase enzyme (GAPD) in partial 12p13.3 pter trisomy].[基因剂量对部分12p13.3 pter三体中甘油醛-3-磷酸脱氢酶（GAPD）的影响]
Bol Med Hosp Infant Mex. 1990 Sep;47(9):656-9.
6
Chromosomal assignment and regional localization of CS, ENO2, GAPDH, LDHB, PEPB, and TPI in man-rodent cell hybrids.人-鼠细胞杂交体中CS、ENO2、GAPDH、LDHB、PEPB和TPI的染色体定位及区域定位
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7
Expression of GAPDH and TPI in dog-rodent hybrids.
Cytogenet Cell Genet. 1978;22(1-6):547-51. doi: 10.1159/000131021.
8
An allele at the triose phosphate isomerase, Tpi-1 locus on chromosome 6 recovered from feral mice.从野生小鼠中获得的位于6号染色体上的磷酸丙糖异构酶（Tpi-1）基因座的一个等位基因。
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Trisomy 9p with i(9p) and t(9q18p).9号染色体短臂三体伴9号染色体短臂等臂染色体及9号染色体长臂与18号染色体短臂易位
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10
Prevalence of partial deficiency of red cell triosephosphate isomerase in Germany--a study of 3000 people.德国红细胞磷酸丙糖异构酶部分缺乏症的患病率——一项对3000人的研究。
Hum Genet. 1984;67(3):336-9. doi: 10.1007/BF00291364.

引用本文的文献

1
New chromosomal dysmorphic syndromes. 4. Trisomy 12p.新的染色体畸变综合征。4. 12号染色体短臂三体综合征
Eur J Pediatr. 1981 Jul;136(3):249-62. doi: 10.1007/BF00442992.
2
PK3: a new chromosome enzyme marker for gene dosage studies in chromosome 15 imbalance.
Hum Genet. 1980;54(2):191-6. doi: 10.1007/BF00278970.
3
Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).一个伴有（7；18）易位的家族中的18号染色体短臂单体和单纯18号染色体短臂三体。
J Med Genet. 1983 Oct;20(5):377-9. doi: 10.1136/jmg.20.5.377.

本文引用的文献

1
G6PD Baudelocque: a new unstable variant characterized in cultured fibroblasts.葡萄糖-6-磷酸脱氢酶波德洛克变异型：一种在培养的成纤维细胞中鉴定出的新型不稳定变异体。
Enzyme. 1974;18(1):45-59.
2
Proceedings: Evidence for synteny between the human loci for triose phosphate isomerase, lactate dehydrogenase-B, and peptidase-B and the regional mapping of these loci on chromosome 12.
Cytogenet Cell Genet. 1974;13(1):106-7. doi: 10.1159/000130248.
3
[A new technic of analysis of the human karyotype].[一种人类核型分析的新技术]
4
Post-transcriptional regulation of glyceraldehyde-3-phosphate-dehydrogenase gene expression in rat tissues.大鼠组织中3-磷酸甘油醛脱氢酶基因表达的转录后调控
Nucleic Acids Res. 1984 Sep 25;12(18):6951-63. doi: 10.1093/nar/12.18.6951.
5
Hereditary triose phosphate isomerase deficiency: seven new homozygous cases.遗传性磷酸丙糖异构酶缺乏症：7例新的纯合子病例。
Hum Genet. 1985;71(3):235-40. doi: 10.1007/BF00284582.
6
Various rat adult tissues express only one major mRNA species from the glyceraldehyde-3-phosphate-dehydrogenase multigenic family.各种大鼠成体组织仅表达来自甘油醛-3-磷酸脱氢酶多基因家族的一种主要mRNA种类。
Nucleic Acids Res. 1985 Mar 11;13(5):1431-42. doi: 10.1093/nar/13.5.1431.
7
Triplex gene dosage effect of TPI and G3PD in a human lymphoblastoid cell line with partial trisomy 12p13 and 18p.在具有部分12p13和18p三体的人淋巴母细胞系中TPI和G3PD的三重基因剂量效应
Hum Genet. 1979 Jun 19;49(2):221-3. doi: 10.1007/BF00277646.
C R Acad Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40.
4
Regional mapping of TPI, LDH-B, and Pep-B on chromosome 12 of man.
Cytogenet Cell Genet. 1975;14(3-6):359-61. doi: 10.1159/000130383.
5
[Localization of the gene of the glyceraldehyde 3 phosphate dehydrogenase on the distal segment of the short arm of the chromosome 12].[12号染色体短臂远端片段上3-磷酸甘油醛脱氢酶基因的定位]
Ann Genet. 1976 Jun;19(2):140-2.
6
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].[一名患有12号染色体三体的男孩因母源易位t(12;14)(q12;p11)的错误分离导致乳酸脱氢酶B活性增加]
Ann Genet. 1975 Jun;18(2):81-7.
7
Syndrome +12p. Case report and review.+12p综合征。病例报告与综述。
Hum Genet. 1977 Nov 2;39(1):97-101. doi: 10.1007/BF00273157.
8
12pter to 12p12.2: possible assignment of human triose phosphate isomerase.
Hum Genet. 1977 Apr 15;36(2):235-7. doi: 10.1007/BF00273263.
9
A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.一名核型为47,XX,+der(12)(12pter至12q12::9q24至8qter),t(8;12)(q24;q12)pat的新生儿。
Hum Genet. 1977 Mar 14;35(3):357-62. doi: 10.1007/BF00446627.
10
Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.
Hum Genet. 1978 Jan 19;40(2):135-47. doi: 10.1007/BF00272294.