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The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency.

作者信息

Rootwelt H, Kvittingen E A, Høie K, Agsteribbe E, Hartog M, van Faassen H, Berger R

机构信息

Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, Norway.

出版信息

Hum Genet. 1992 May;89(2):229-33. doi: 10.1007/BF00217128.

DOI:10.1007/BF00217128
PMID:1350265
Abstract

Deficiency of human fumarylacetoacetase (FAH) activity results in hereditary tyrosinemia type I. Using the restriction enzymes BglII, KpnI and StuI and a 1.3-kb cDNA probe for the FAH gene, we have found 6 restriction fragment length polymorphisms (RFLPs). These RFLPs were utilised in 3 tyrosinemia families in which one or both parents are carriers of both a tyrosinemia and a pseudodeficiency gene for FAH. Full information was obtained in two of these families. The polymorphisms identified 6 haplotypes. The haplotype distribution was significantly different in 32 unrelated tyrosinemia patients compared with a reference population of 100 individuals. The combined polymorphism information content was 0.77.

摘要

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2
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引用本文的文献

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2
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本文引用的文献

1
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。
Am J Hum Genet. 1980 May;32(3):314-31.
2
Deficiency of fumarylacetoacetase without hereditary tyrosinemia.
Clin Genet. 1985 Jun;27(6):550-4. doi: 10.1111/j.1399-0004.1985.tb02039.x.
3
The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.I型酪氨酸血症的产前和产后诊断以及通过测定富马酰乙酰乙酸酶检测携带者状态。
两个错义突变导致1型酪氨酸血症，伴有或不伴有免疫反应性延胡索酰乙酰乙酸酶。
Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558.
4
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.在富马酰乙酰乙酸酯酶基因中鉴定出一种常见的假缺陷突变，对I型酪氨酸血症的诊断具有重要意义。
Am J Hum Genet. 1994 Dec;55(6):1122-7.
5
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1.富马酰乙酰乙酸酯酶基因中的新型剪接、错义及无义突变导致1型酪氨酸血症。
Am J Hum Genet. 1994 Oct;55(4):653-8.
6
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.I型遗传性酪氨酸血症：在法裔加拿大人中与单倍型6密切相关，便于进行简单的携带者检测和产前诊断。
Am J Hum Genet. 1994 Aug;55(2):327-33.
Scand J Clin Lab Invest Suppl. 1986;184:35-40.
4
Type I tyrosinemia: lack of immunologically detectable fumarylacetoacetase enzyme protein in tissues and cell extracts.I型酪氨酸血症：在组织和细胞提取物中缺乏免疫可检测的延胡索酰乙酰乙酸酶蛋白。
Pediatr Res. 1987 Oct;22(4):394-8. doi: 10.1203/00006450-198710000-00005.
5
Stable isotope dilution analysis of succinylacetone using electron capture negative ion mass fragmentography: an accurate approach to the pre- and neonatal diagnosis of hereditary tyrosinemia type I.
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6
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).遗传性酪氨酸血症（I型）两种临床形式中富马酰乙酰乙酸水解酶缺乏的不同分子基础。
Am J Hum Genet. 1990 Aug;47(2):308-16.
7
Nucleotide sequence of cDNA encoding human fumarylacetoacetase.编码人富马酰乙酰乙酸酯酶的cDNA的核苷酸序列。
Nucleic Acids Res. 1990 Apr 11;18(7):1887. doi: 10.1093/nar/18.7.1887.
8
Cloning and expression of the cDNA encoding human fumarylacetoacetate hydrolase, the enzyme deficient in hereditary tyrosinemia: assignment of the gene to chromosome 15.编码人富马酰乙酰乙酸水解酶（遗传性酪氨酸血症中缺乏的酶）的cDNA的克隆与表达：该基因定位于15号染色体
Am J Hum Genet. 1991 Mar;48(3):525-35.
9
KpnI and RsaI RFLPs for the human fumarylacetoacetate hydrolase (FAH) gene.人富马酰乙酰乙酸水解酶（FAH）基因的KpnI和RsaI限制性片段长度多态性
Nucleic Acids Res. 1991 Apr 25;19(8):1965.
10
Bg1II RFLP for the human fumarylacetoacetate hydrolase (FAH) gene.人富马酰乙酰乙酸水解酶（FAH）基因的Bg1II限制性片段长度多态性
Nucleic Acids Res. 1991 Apr 25;19(8):1965.