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Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.

作者信息

Picat C, Delfau M H, de Rooij F W, Beukeveld G J, Wolthers B G, Wadman S K, Nordmann Y, Grandchamp B

机构信息

Laboratoire de Génétique Moléculaire, Faculté Xavier Bichat, Paris, France.

出版信息

J Inherit Metab Dis. 1990;13(5):684-6. doi: 10.1007/BF01799567.

DOI:10.1007/BF01799567
PMID:2246852
Abstract

The molecular abnormalities responsible for acute intermittent porphyria were investigated in both parents of a girl who was retrospectively diagnosed as having a homozygous form of the disease. The mutations in the parents are different from each other and both of them correspond to previously identified G to A changes in the coding part of the porphobilinogen deaminase mRNA. These point mutations lead to the presence of a catalytically-defective but immunologically-reactive enzyme. Our results support the conclusion that the propositus girl may represent the first case of compound heterozygosity for acute intermittent porphyria alleles.

摘要

相似文献

1
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria.
J Inherit Metab Dis. 1990;13(5):684-6. doi: 10.1007/BF01799567.
2
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.纯合子急性间歇性卟啉症：卟胆原脱氨酶基因同一密码子中相邻碱基转换的复合杂合性。
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本文引用的文献

1
Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.胆色素原脱氨酶的组织特异性表达。来自单一基因的两种同工酶。
Eur J Biochem. 1987 Jan 2;162(1):105-10. doi: 10.1111/j.1432-1033.1987.tb10548.x.
2
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.胆色素原脱氨酶基因第12外显子中的一个点突变G→A导致外显子跳跃，这是急性间歇性卟啉症的病因。
Nucleic Acids Res. 1989 Aug 25;17(16):6637-49. doi: 10.1093/nar/17.16.6637.
3
A retrospective study of a patient with homozygous form of acute intermittent porphyria.
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
卟啉症遗传学的最新进展：遗传、外显率和分子异质性，包括新的修饰/致病基因。
Mol Genet Metab. 2019 Nov;128(3):320-331. doi: 10.1016/j.ymgme.2018.11.012. Epub 2018 Nov 30.
4
Acute intermittent porphyria in Argentina: an update.阿根廷的急性间歇性卟啉症：最新情况
Biomed Res Int. 2015;2015:946387. doi: 10.1155/2015/946387. Epub 2015 May 17.
5
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.一名7岁男孩患纯合子急性间歇性卟啉病，伴有大量卟啉和卟啉前体排泄。
J Inherit Metab Dis. 2004;27(1):19-27. doi: 10.1023/B:BOLI.0000016613.75677.05.
6
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.急性间歇性卟啉病患者中胆色素原脱氨酶基因第12外显子高突变频率的检测。
Hum Genet. 1993 Dec;92(6):619-22. doi: 10.1007/BF00420949.
7
Porphobilinogen deaminase gene structure and molecular defects.胆色素原脱氨酶基因结构与分子缺陷
J Bioenerg Biomembr. 1995 Apr;27(2):197-205. doi: 10.1007/BF02110034.
8
A retrospective study of a patient with homozygous form of acute intermittent porphyria.一名纯合型急性间歇性卟啉病患者的回顾性研究。
J Inherit Metab Dis. 1990;13(5):673-83. doi: 10.1007/BF01799566.
9
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.纯合子急性间歇性卟啉症：卟胆原脱氨酶基因同一密码子中相邻碱基转换的复合杂合性。
Hum Genet. 1992 Apr;89(1):97-8. doi: 10.1007/BF00207051.
10
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.通过对体外扩增的cDNA进行直接测序，检测急性间歇性卟啉病患者胆色素原脱氨酶基因中的七个点突变。
Hum Genet. 1992 Sep-Oct;90(1-2):12-6. doi: 10.1007/BF00210738.
一名纯合型急性间歇性卟啉病患者的回顾性研究。
J Inherit Metab Dis. 1990;13(5):673-83. doi: 10.1007/BF01799566.