Literature DB >> 8118466

Reverse dot blot probes for the screening of beta-thalassemia mutations in Asians and American blacks.

S P Cai1, J Wall, Y W Kan, F F Chehab.   

Abstract

We have optimized a battery of reverse dot blot oligonucleotide probes for detecting the most common beta-globin gene mutations in Asians and American Blacks. These probes allow a high degree of coverage of mutant chromosomes in these two populations and are useful in mutation screening and prenatal diagnosis. When coupled with the Mediterranean subset of probes, a 95% worldwide coverage of beta-thalassemia mutations should be possible. The use of these probes in the reverse dot blot system should allow the distribution of premade strips and application to automated screening.

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Year:  1994        PMID: 8118466     DOI: 10.1002/humu.1380030110

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  13 in total

1.  A melting curve analysis--based PCR assay for one-step genotyping of β-thalassemia mutations a multicenter validation.

Authors:  Fu Xiong; Qiuying Huang; Xiaoyun Chen; Yuqiu Zhou; Xinhua Zhang; Ren Cai; Yajun Chen; Jiansheng Xie; Shanwei Feng; Xiaofeng Wei; Qizhi Xiao; Tianlang Zhang; Shiqiang Luo; Xuehuang Yang; Ying Hao; Yanxia Qu; Qingge Li; Xiangmin Xu
Journal:  J Mol Diagn       Date:  2011-05-06       Impact factor: 5.568

2.  Setup of a Protocol of Molecular Diagnosis of β-Thalassemia Mutations in Tunisia using Denaturing High-Performance Liquid Chromatography (DHPLC).

Authors:  Chaima Abdelhafidh Sahli; Ikbel Ben Salem; Latifa Jouini; Naouel Laouini; Rym Dabboubi; Sondes Hadj Fredj; Hajer Siala; Rym Othmeni; Boutheina Dakhlaoui; Slaheddine Fattoum; Amina Bibi; Taieb Messaoud
Journal:  J Clin Lab Anal       Date:  2016-04-18       Impact factor: 2.352

3.  The performance of MALBAC and MDA methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta-thalassaemia disorders at the single- and multiple-cell levels.

Authors:  WeiQiang Liu; HuiMin Zhang; Dan Hu; SiJia Lu; XiaoFang Sun
Journal:  J Clin Lab Anal       Date:  2017-05-26       Impact factor: 2.352

4.  The great heterogeneity of thalassemia molecular defects in Sicily.

Authors:  A Giambona; P Lo Gioco; M Marino; I Abate; R Di Marzo; M Renda; F Di Trapani; F Messana; S Siciliano; P Rigano
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

5.  Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

Authors:  Murali Dharan Bashyam; Leena Bashyam; Gorinabele R Savithri; Munimanda Gopikrishna; Vartul Sangal; Akela Radha Rama Devi
Journal:  J Hum Genet       Date:  2004-07-24       Impact factor: 3.172

6.  Evidence of gene conversion in the evolutionary process of the codon 41/42 (-CTTT) mutation causing beta-thalassemia in southern China.

Authors:  Wen Zhang; Wang-Wei Cai; Wei-Ping Zhou; Hai-Peng Li; Liang Li; Wei Yan; Qin-Kai Deng; Ya-Ping Zhang; Yun-Xin Fu; Xiang-Min Xu
Journal:  J Mol Evol       Date:  2008-04-15       Impact factor: 2.395

7.  Visual genotyping of thalassemia by using pyrrolidinyl peptide nucleic acid probes immobilized on carboxymethylcellulose-modified paper and enzyme-induced pigmentation.

Authors:  Nuttapon Jirakittiwut; Thongperm Munkongdee; Kanet Wongravee; Orapan Sripichai; Suthat Fucharoen; Thanit Praneenararat; Tirayut Vilaivan
Journal:  Mikrochim Acta       Date:  2020-03-18       Impact factor: 5.833

8.  Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden.

Authors:  Zohreh Rahimi; Asad Vaisi-Raygani; Ronald L Nagel; Adriana Muniz
Journal:  J Thromb Thrombolysis       Date:  2007-07-11       Impact factor: 2.300

9.  Prenatal diagnosis of α- and β-thalassemias in southern Thailand.

Authors:  Chamnong Nopparatana; Chawadee Nopparatana; Vannarat Saechan; Sataron Karnchanaopas; Korntip Srewaradachpisal
Journal:  Int J Hematol       Date:  2019-10-28       Impact factor: 2.490

10.  Complete blood count reference intervals for healthy Han Chinese adults.

Authors:  Xinzhong Wu; Min Zhao; Baishen Pan; Jie Zhang; Mingting Peng; Lanlan Wang; Xiaoke Hao; Xianzhang Huang; Runqing Mu; Wei Guo; Rui Qiao; Wenxiang Chen; Hong Jiang; Yueyun Ma; Hong Shang
Journal:  PLoS One       Date:  2015-03-13       Impact factor: 3.240

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