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PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.

作者信息

Wedemeyer N, Dworniczak B, Horst J

机构信息

Institut für Humangenetik, Universität, Vesaliusweg, Münster, FRG.

出版信息

Nucleic Acids Res. 1991 Apr 25;19(8):1959. doi: 10.1093/nar/19.8.1959.

DOI:10.1093/nar/19.8.1959
PMID:1709499
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC328145/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddeb/328145/854309dbee76/nar00088-0216-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddeb/328145/854309dbee76/nar00088-0216-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ddeb/328145/854309dbee76/nar00088-0216-a.jpg

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1
PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.在人苯丙氨酸羟化酶(PAH)基因座上对MspI(Aa)限制性片段长度多态性(RFLP)进行聚合酶链反应(PCR)检测。
Nucleic Acids Res. 1991 Apr 25;19(8):1959. doi: 10.1093/nar/19.8.1959.
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PCR detection of the PvuII (Ea) RFLP at the human phenylalanine hydroxylase (PAH) locus.在人苯丙氨酸羟化酶(PAH)基因座处通过聚合酶链反应(PCR)检测PvuII(Ea)限制性片段长度多态性(RFLP)
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PCR detection of the Bg1II RFLP at the human phenylalanine hydroxylase (PAH) locus.人苯丙氨酸羟化酶(PAH)基因座Bg1II限制性片段长度多态性的聚合酶链反应检测
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Detection of the XmnI RFLP at the human PAH locus by PCR.通过聚合酶链反应检测人类苯丙氨酸羟化酶基因座处的XmnI限制性片段长度多态性。
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MspI polymorphism of the human CYP2E gene.人类CYP2E基因的MspI多态性
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Polymerase chain reaction (PCR) for detection of MspI polymorphism at the D3S2 locus.
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引用本文的文献

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Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population.伊朗人群中人类苯丙氨酸羟化酶(PAH)基因区域内的遗传多样性与平衡选择
Iran J Public Health. 2012;41(5):97-104. Epub 2012 May 31.
2
Phylogenetic relationship analysis of Iranians and other world populations using allele frequencies at 12 polymorphic markers.利用 12 个多态性标记的等位基因频率分析伊朗人与其他世界人群的系统发生关系。
Mol Biol Rep. 2012 Dec;39(12):11187-99. doi: 10.1007/s11033-012-2028-7. Epub 2012 Oct 14.
3
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

本文引用的文献

1
Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.人类苯丙氨酸羟化酶基因座的广泛限制性酶切位点多态性及其在苯丙酮尿症产前诊断中的应用。
Am J Hum Genet. 1985 Jul;37(4):619-34.
2
Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.
Proc Natl Acad Sci U S A. 1985 Sep;82(18):6221-5. doi: 10.1073/pnas.82.18.6221.
在全球人群样本中苯丙氨酸羟化酶基因座(PAH)的单倍型与连锁不平衡
Am J Hum Genet. 2000 Jun;66(6):1882-99. doi: 10.1086/302952. Epub 2000 Apr 27.
4
Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.葡萄牙苯丙氨酸羟化酶缺乏所致高苯丙氨酸血症的群体遗传学
J Med Genet. 1998 Apr;35(4):301-4. doi: 10.1136/jmg.35.4.301.
5
Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.捷克共和国经典苯丙酮尿症患者苯丙氨酸羟化酶等位基因的突变与单倍型分析:鉴定出四个新突变
J Med Genet. 1997 Nov;34(11):893-8. doi: 10.1136/jmg.34.11.893.
6
Phenylketonuria in Spain: RFLP haplotypes and linked mutations.西班牙的苯丙酮尿症:限制性片段长度多态性单倍型和连锁突变
Hum Genet. 1993 Oct 1;92(3):254-8. doi: 10.1007/BF00244468.
7
PKU in Slovakia: mutation screening and haplotype analysis.斯洛伐克的苯丙酮尿症:突变筛查与单倍型分析
Hum Genet. 1995 Jan;95(1):112-4. doi: 10.1007/BF00225087.
8
Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.澳大利亚维多利亚州未经治疗的苯丙酮尿症患者中苯丙氨酸羟化酶等位基因的特征:等位基因和单倍型的起源
Am J Hum Genet. 1995 May;56(5):1034-41.
9
Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.捷克苯丙酮尿症(PKU)家系中苯丙酮尿症突变及其与PAH基因座RFLP单倍型的关系。
Hum Genet. 1995 Oct;96(4):472-6. doi: 10.1007/BF00191809.
10
Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.人类苯丙氨酸羟化酶(PAH)基因座单倍型的更新列表。
Am J Hum Genet. 1992 Dec;51(6):1445-8.