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Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.

作者信息

Gossen M, Wüllrich A, Kilimann M W

机构信息

Institut für Physiologische Chemie, Ruhr-Universität Bochum, Germany.

出版信息

Hum Genet. 1995 Apr;95(4):469-70. doi: 10.1007/BF00208982.

DOI:10.1007/BF00208982
PMID:7705849
Abstract

A polymorphic complex repeat including two (TG)n stretches was identified in the intron following codon 26 of the human gene encoding the muscle isoform of the phosphorylase kinase alpha subunit (PHKA1). It should be a useful marker for linkage analysis of families with heritable phosphorylase kinase deficiency and for gene mapping in the vicinity of the X inactivation center.

摘要

相似文献

1
Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
Hum Genet. 1995 Apr;95(4):469-70. doi: 10.1007/BF00208982.
2
Molecular genetics of phosphorylase kinase: cDNA cloning, chromosomal mapping and isoform structure.磷酸化酶激酶的分子遗传学：cDNA克隆、染色体定位及同工型结构
J Inherit Metab Dis. 1990;13(4):435-41. doi: 10.1007/BF01799500.
3
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).由于磷酸化酶激酶缺乏导致的肝脏和肌肉常染色体糖原贮积病是由磷酸化酶激酶β亚基（PHKB）的突变引起的。
Hum Mol Genet. 1997 Jul;6(7):1109-15. doi: 10.1093/hmg/6.7.1109.
4
cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.磷酸化酶激酶α亚基肝脏异构体的cDNA克隆及该基因定位于Xp22.2-p22.1，即人类X连锁肝脏糖原贮积症区域。
Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2096-100. doi: 10.1073/pnas.89.6.2096.
5
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.由于磷酸化酶激酶缺乏导致的人类肌肉糖原贮积症，与α亚基肌肉异构体中的无义突变相关。
Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983.
6
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.磷酸化酶激酶活性低的肌肉糖原贮积症：PHKA1、PHKG1或其他六个候选基因中的突变仅解释了少数病例。
Eur J Hum Genet. 2003 Jul;11(7):516-26. doi: 10.1038/sj.ejhg.5200996.
7
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.磷酸化酶激酶基因PHKA2的突变是X连锁肝糖原贮积病的病因。
Hum Mol Genet. 1995 Jan;4(1):77-83. doi: 10.1093/hmg/4.1.77.
8
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.由于磷酸化酶激酶缺乏引起的肝糖原累积症：PHKG2基因结构及与肝硬化相关的突变
Hum Mol Genet. 1998 Jan;7(1):149-54. doi: 10.1093/hmg/7.1.149.
9
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.因磷酸化酶激酶缺乏所致的X连锁肝糖原贮积症基因定位于人染色体Xp22区域。
Genomics. 1991 Apr;9(4):565-9. doi: 10.1016/0888-7543(91)90347-h.
10
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.磷酸化酶激酶γ亚基（PHKG2）睾丸/肝脏同工型的突变在gsd大鼠和人类中导致常染色体性肝糖原贮积病。
Nat Genet. 1996 Nov;14(3):337-40. doi: 10.1038/ng1196-337.

引用本文的文献

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Front Neurol. 2022 Aug 11;13:945280. doi: 10.3389/fneur.2022.945280. eCollection 2022.

本文引用的文献

1
2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.位于Xq13的人类X染色体失活中心区域的2.6兆碱基酵母人工染色体重叠群：RPS4X、PHKA1、XIST和DXS128E基因的物理连锁
Hum Mol Genet. 1993 Aug;2(8):1105-15. doi: 10.1093/hmg/2.8.1105.
2
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.I系小鼠中的磷酸化酶激酶缺乏与α亚基肌肉同工型中的移码突变有关。
Nat Genet. 1993 Dec;5(4):381-5. doi: 10.1038/ng1293-381.
3
The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.
磷酸化酶激酶αM和αL亚基的多磷酸化结构域是差异mRNA加工和分子进化的热点。
J Biol Chem. 1993 Nov 5;268(31):23208-14.
4
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.由于磷酸化酶激酶缺乏导致的人类肌肉糖原贮积症，与α亚基肌肉异构体中的无义突变相关。
Hum Mol Genet. 1994 Nov;3(11):1983-7. doi: 10.1093/hmg/3.11.1983.
5
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.将人磷酸化酶激酶α亚基（PHKA）基因定位于Xq12-q13，β亚基（PHKB）基因定位于16q12-q13。
Am J Hum Genet. 1989 Aug;45(2):276-82.