Literature DB >> 9222762

SSCP analysis: a blind sensitivity trial.

A Jordanova1, L Kalaydjieva, A Savov, M Claustres, M Schwarz, X Estivill, D Angelicheva, A Haworth, T Casals, I Kremensky.   

Abstract

Studies of the sensitivity of SSCP analysis usually have been performed under conditions contrary to the rules of quality control trials and have produced widely different results. We have performed a blind trial of the sensitivity of SSCP analysis for the detection of mutations in fragments up to 500 bp in length under a fixed single set of electrophoretic conditions. The mutation detection rate was 84%. In addition, we have identified a second mutation in nine samples. All these mutations are polymorphisms, including a novel polymorphism 1248 + 52T/C first reported in the present work.

Entities:  

Mesh:

Substances:

Year:  1997        PMID: 9222762     DOI: 10.1002/(SICI)1098-1004(1997)10:1<65::AID-HUMU9>3.0.CO;2-L

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


  10 in total

1.  Mutation screening of the muscarinic M(2) and M(3) receptor genes in normal and asthmatic subjects.

Authors:  A G Fenech; M J Ebejer; A E Felice; R Ellul-Micallef; I P Hall
Journal:  Br J Pharmacol       Date:  2001-05       Impact factor: 8.739

2.  Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

Authors:  S Finnilä; I E Hassinen; L Ala-Kokko; K Majamaa
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

3.  Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States.

Authors:  Yuan Chun Ding; Linda Steele; Chih-Jen Kuan; Scott Greilac; Susan L Neuhausen
Journal:  Breast Cancer Res Treat       Date:  2010-10-07       Impact factor: 4.872

Review 4.  PCR-SSCP: a method for the molecular analysis of genetic diseases.

Authors:  V Konstantinos Kakavas; Kakavas V Konstantinos; Panagiotis Plageras; Plageras Panagiotis; T Antonios Vlachos; Vlachos T Antonios; Agelos Papaioannou; Papaioannou Agelos; V Argiris Noulas; Noulas V Argiris
Journal:  Mol Biotechnol       Date:  2007-10-13       Impact factor: 2.695

5.  A novel mutation of STK11/LKB1 gene leads to the loss of cell growth inhibition in head and neck squamous cell carcinoma.

Authors:  W Qiu; F Schönleben; H M Thaker; M Goggins; G H Su
Journal:  Oncogene       Date:  2006-05-11       Impact factor: 9.867

6.  Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

Authors:  Andreas Perrot; Hajo Schmidt-Traub; Bernard Hoffmann; Matthias Prager; Nana Bit-Avragim; Raisa I Rudenko; Dinara A Usupbaeva; Zhyldyz Kabaeva; Bakytbek Imanov; Mirsaid M Mirrakhimov; Rainer Dietz; Anna Wycisk; Michal Tendera; Reinhard Gessner; Karl Josef Osterziel
Journal:  J Mol Med (Berl)       Date:  2005-04-22       Impact factor: 4.599

7.  A novel germline PALB2 deletion in Polish breast and ovarian cancer patients.

Authors:  Agnieszka Dansonka-Mieszkowska; Anna Kluska; Joanna Moes; Michalina Dabrowska; Dorota Nowakowska; Anna Niwinska; Pawel Derlatka; Krzysztof Cendrowski; Jolanta Kupryjanczyk
Journal:  BMC Med Genet       Date:  2010-02-02       Impact factor: 2.103

8.  Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.

Authors:  Vassil A Mihaylov; Anelia D Horvath; Alexey S Savov; Elina F Kurshelova; Ivanka D Paskaleva; Assen R Goudev; Ivaylo R Stoilov; Varban S Ganev
Journal:  J Hum Genet       Date:  2004-03-10       Impact factor: 3.172

9.  Frequent p53 mutation in brain (fetal)-type glycogen phosphorylase positive foci adjacent to human 'de novo' colorectal carcinomas.

Authors:  S Shimada; K Shiomori; S Tashima; J Tsuruta; M Ogawa
Journal:  Br J Cancer       Date:  2001-06-01       Impact factor: 7.640

10.  Characterization of two MHC II genes (DOB, DRB) in white-tailed deer (Odocoileus virginianus).

Authors:  Natascha M D Ivy-Israel; Carolyn E Moore; Tonia S Schwartz; Stephen S Ditchkoff
Journal:  BMC Genet       Date:  2020-07-29       Impact factor: 2.797

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.