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The human tyrosine aminotransferase gene: characterization of restriction fragment length polymorphisms and haplotype analysis in a family with tyrosinemia type II.

作者信息

Westphal E M, Natt E, Grimm T, Odievre M, Scherer G

机构信息

Institut für Humangenetik und Anthropologie der Universität, Freiburg i. Br, Federal Republic of Germany.

出版信息

Hum Genet. 1988 Jul;79(3):260-4. doi: 10.1007/BF00366248.

DOI:10.1007/BF00366248
PMID:2456982
Abstract

Deficiency in hepatic tyrosine aminotransferase (TAT) causes tyrosinemia type II, an autosomal recessively inherited disorder. Using a TAT cosmid clone, we have identified an MspI restriction fragment length polymorphism (RFLP) 5' to the TAT gene, with allele frequencies of 0.63 and 0.37. Analysis of the cloned maternal and paternal TAT alleles from a patient with tyrosinemia type II led to the identification of a HaeIII RFLP at the 3' end of the TAT gene, with allele frequencies of 0.94 and 0.06. The two RFLPs are 27 kb apart and in no allelic association. From haplotype frequencies, a polymorphism information content (PIC) value of 0.44 was obtained. The two RFLPs have allowed the unambiguous identification of the mutant TAT alleles in the patient's pedigree by haplotype analysis.

摘要

相似文献

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本文引用的文献

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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.
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Hepatic tyrosine aminotransferase in tyrosinaemia type II.II型酪氨酸血症中的肝酪氨酸转氨酶
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Construction of a map of chromosome 16 by using radiation hybrids.利用辐射杂种构建16号染色体图谱。
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Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.II型酪氨酸血症中酪氨酸转氨酶基因的点突变。
Proc Natl Acad Sci U S A. 1992 Oct 1;89(19):9297-301. doi: 10.1073/pnas.89.19.9297.
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Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.
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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。
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Soluble and mitochondrial forms of tyrosine aminotransferase. Relationship to human tyrosinemia.酪氨酸转氨酶的可溶性和线粒体形式。与人类酪氨酸血症的关系。
Biochemistry. 1969 Feb;8(2):615-22. doi: 10.1021/bi00830a023.
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A chi-square test to distinguish allelic association from other causes of phenotypic association between two loci.用于区分两个基因座之间等位基因关联与表型关联其他原因的卡方检验。
Genet Epidemiol. 1985;2(1):79-84. doi: 10.1002/gepi.1370020108.
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Report of the Committee on Comparative Mapping.比较图谱委员会报告
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EMBL 12, a new lambda replacement vector with sites for SalI, XbaI, BamHI, SstI and EcoRI.EMBL 12，一种新的λ置换载体，带有SalI、XbaI、BamHI、SstI和EcoRI酶切位点。
Nucleic Acids Res. 1986 Sep 11;14(17):7128.
9
Tyrosine aminotransferase and chymotrypsinogen B are linked to haptoglobin on human chromosome 16q: comparison of genetic and physical distances.
Genomics. 1987 Dec;1(4):313-9. doi: 10.1016/0888-7543(87)90030-9.
10
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1----q22.3 in a patient with tyrosinemia type II.
Hum Genet. 1987 Dec;77(4):352-8. doi: 10.1007/BF00291426.