• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.西阿塞拜疆苯丙酮尿症患者中PAH突变与VNTR等位基因之间的关联
Maedica (Bucur). 2014 Sep;9(3):242-7.
2
Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.伊朗阿塞拜疆土耳其族苯丙酮尿症患者PAH基因VNTR多态性的频率
Maedica (Bucur). 2015 Sep;10(4):310-314.
3
Mutation analysis of the phenylalanine hydroxylase gene in Azerbaijani population, a report from West Azerbaijan province of Iran.伊朗西阿塞拜疆省阿塞拜疆人群苯丙氨酸羟化酶基因的突变分析报告
Iran J Basic Med Sci. 2015 Jul;18(7):649-53.
4
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.
5
Mutation spectrum of phenylketonuria in Iranian population.伊朗人群苯丙酮尿症的突变谱。
Mol Genet Metab. 2011 Jan;102(1):29-32. doi: 10.1016/j.ymgme.2010.09.001. Epub 2010 Sep 16.
6
IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.马托格罗索州苯丙酮尿症患者苯丙氨酸羟化酶基因突变的鉴定
Rev Paul Pediatr. 2020 Feb 14;38:e2018351. doi: 10.1590/1984-0462/2020/38/2018351. eCollection 2020.
7
The molecular basis of phenylketonuria in Latvia.拉脱维亚苯丙酮尿症的分子基础。
Hum Mutat. 2003 Apr;21(4):398-9. doi: 10.1002/humu.9114.
8
[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].[中国北京地区苯丙酮尿症患者苯丙氨酸羟化酶基因突变谱及基因型-表型相关性]
Zhonghua Er Ke Za Zhi. 2008 Feb;46(2):115-9.
9
The status of gene-VNTR alleles and mini-haplotypes associations with gene mutations in Iranian Kurdish PKU patients.伊朗库尔德苯丙酮尿症患者中基因-VNTR等位基因和微单倍型与基因突变的关联状况。
Med J Islam Repub Iran. 2019 Aug 26;33:88. doi: 10.34171/mjiri.33.88. eCollection 2019.
10
Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation.立陶宛人群中的苯丙酮尿症突变及连锁单倍型：最常见的R408W突变的起源
Hum Hered. 1997 May-Jun;47(3):155-60. doi: 10.1159/000154403.

引用本文的文献

1
Multiplex Snapshot minisequencing for the detection of common PAH gene mutations in Iranian patients with Phenylketonuria.多重瞬时串联测序法检测伊朗苯丙酮尿症患者常见 PAH 基因突变。
Iran Biomed J. 2023 Jan 1;27(1):46-57. doi: 10.52547/ibj.3856.
2
The status of gene-VNTR alleles and mini-haplotypes associations with gene mutations in Iranian Kurdish PKU patients.伊朗库尔德苯丙酮尿症患者中基因-VNTR等位基因和微单倍型与基因突变的关联状况。
Med J Islam Repub Iran. 2019 Aug 26;33:88. doi: 10.34171/mjiri.33.88. eCollection 2019.
3
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles.伊朗哈马丹省和洛雷斯坦省苯丙氨酸羟化酶基因突变谱及其与串联重复等位基因可变数目的关联。
Iran J Med Sci. 2018 May;43(3):318-323.
4
Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.伊朗阿塞拜疆土耳其族苯丙酮尿症患者PAH基因VNTR多态性的频率
Maedica (Bucur). 2015 Sep;10(4):310-314.

本文引用的文献

1
Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects.重新审视母源性苯丙酮尿症国际合作研究：评估除苯丙氨酸以外的母体营养风险因素对胎儿先天性心脏缺陷的影响。
J Inherit Metab Dis. 2014 Jan;37(1):39-42. doi: 10.1007/s10545-013-9627-x. Epub 2013 Jun 20.
2
Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies.孕妇苯丙酮尿症和高苯丙氨酸血症：未治疗和治疗妊娠的妊娠并发症和新生儿后遗症。
Am J Clin Nutr. 2012 Feb;95(2):374-82. doi: 10.3945/ajcn.110.009456. Epub 2011 Dec 28.
3
Phenylalanine hydroxylase deficiency.苯丙氨酸羟化酶缺乏症。
Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48.
4
Mutation spectrum of phenylketonuria in Iranian population.伊朗人群苯丙酮尿症的突变谱。
Mol Genet Metab. 2011 Jan;102(1):29-32. doi: 10.1016/j.ymgme.2010.09.001. Epub 2010 Sep 16.
5
Carrier detection of phenylketonuria in Iranian families by variable number tandem-repeat polymorphism analysis.通过可变数目串联重复多态性分析对伊朗家庭进行苯丙酮尿症的携带者检测。
East Mediterr Health J. 2008 Nov-Dec;14(6):1445-51.
6
Role of nutrition in pregnancy with phenylketonuria and birth defects.营养在苯丙酮尿症妊娠及出生缺陷中的作用。
Pediatrics. 2003 Dec;112(6 Pt 2):1534-6.
7
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.欧洲R408W苯丙酮尿症突变谱系内的遗传多样性。
Hum Mutat. 2003 Apr;21(4):387-93. doi: 10.1002/humu.10195.
8
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited.爱尔兰共和国高苯丙氨酸血症的突变谱：对爱尔兰人口历史的重新审视。
Eur J Hum Genet. 2002 Sep;10(9):530-8. doi: 10.1038/sj.ejhg.5200841.
9
Incidence of phenylketonuria in Iran estimated from consanguineous marriages.根据近亲婚姻情况估算伊朗苯丙酮尿症的发病率。
J Inherit Metab Dis. 2002 Feb;25(1):80-1. doi: 10.1023/a:1015154321142.
10
Phenylketonuria mutations in Germany.德国的苯丙酮尿症突变
Hum Genet. 1999 May;104(5):390-8. doi: 10.1007/s004390050973.

西阿塞拜疆苯丙酮尿症患者中PAH突变与VNTR等位基因之间的关联

Association Between PAH Mutations and VNTR Alleles in the West Azerbaijani PKU Patients.

作者信息

Bagheri Morteza, Rad Isa Abdi, Jazani Nima Hosseini, Zarrin Rasoul, Ghazavi Ahad

机构信息

Research Center of Food and Beverages Safety, Urmia University of Medical Sciences, Urmia, Iran ; Department of Genetics, Urmia University of Medical Sciences, Urmia, Iran ; Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.

Research Center of Food and Beverages Safety, Urmia University of Medical Sciences, Urmia, Iran.

出版信息

Maedica (Bucur). 2014 Sep;9(3):242-7.

PMID:25705285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4305991/
Abstract

INTRODUCTION

We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients.

MATERIAL AND METHODS

VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR.

OUTCOMES

Our analysis showed that 95% of cases were homozygote for an allele containing eight-repeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546-VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q-VNTR8 (22.5%). The association of VNTR3 was found as R252W-VNTR3 (2.5%) and S67P-VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546-VNTR8/IVS10nt546-VNTR8, IVS10nt546-VNTR8/ND-VNTR8, IVS10nt546-VNTR8/R252W-VNTR8, R261Q-VNTR8/R261Q-VNTR8, R261Q-VNTR8/ND-VNTR8, and S67P-VNTR3/ R252W-VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study.

CONCLUSIONS

The present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546-VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting.

摘要

引言

我们报告了西阿塞拜疆苯丙酮尿症（PKU）患者中与PAH VNTR等位基因相关的IVS10nt546、R261Q、S67P、R252W和R408W突变的频率。

材料与方法

通过PCR和RFLP-PCR对总共20例PKU患者的VNTR等位基因以及IVS10nt546、R261Q、S67P、R252W、R408W突变进行了研究。

结果

我们的分析表明，95%的病例是含有八重复VNTR（VNTR8）等位基因的纯合子；而5%是含有三重复VNTR（VNTR3）等位基因的纯合子。IVS10nt546、R252W和R261Q突变与VNTR8等位基因相关，并且，R252W和S67P突变与VNTR3等位基因相关。VNTR8在突变等位基因中很常见，IVS10nt546-VNTR8（50%）、R252W-VNTR8（2.5%）和R261Q-VNTR8（22.5%）也是如此。在研究病例中，发现VNTR3的关联为R252W-VNTR3（2.5%）和S67P-VNTR3（2.5%）。IVS10nt546-VNTR8/IVS10nt546-VNTR8、IVS10nt546-VNTR8/ND-VNTR8、IVS10nt546-VNTR8/R252W-VNTR8、R261Q-VNTR8/R261Q-VNTR8、R261Q-VNTR8/ND-VNTR8和S67P-VNTR3/R252W-VNTR3的频率分别为30%、35%、5%、20%、5%和5%。本研究未发现R408W突变。

结论

本报告是关于西阿塞拜疆人群（伊朗）的首例此类报告，表明该人群中最常见的PKU突变IVS10nt546仅与VNTR8等位基因相关，在常规携带者筛查和产前诊断中应考虑进行IVS10nt546-VNTR8等位基因检测。