Ann N Y Acad Sci. 2008 Aug;1137:302-8.

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Papasavva T, Kalikas I, Kyrri A, Kleanthous M.

Source

The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. thesalia@cing.ac.cy

Abstract

beta-Thalassemia is one of the most common autosomal recessive single-gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for beta-thalassemia is based mostly on the detection of paternally inherited single nucleotide polymorphisms (SNPs) using the arrayed primer extension (APEX) method. Eleven SNPs with high degree of heterozygosity in the Cypriot population were selected and analyzed on 34 families and the informative SNPs were determined. The APEX assay was used on maternal plasma of seven families using the informative SNPs; paternal allele of the fetus was noninvasively detected in five families.

PMID:: 18837964; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia. [Ann N Y Acad Sci. 2006]
Noninvasive prenatal diagnostic assay for the detection of beta-thalassemia.
Papasavva T, Kalakoutis G, Kalikas I, Neokli E, Papacharalambous S, Kyrri A, Kleanthous M. Ann N Y Acad Sci. 2006 Sep; 1075:148-53.
Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese. [Eur J Obstet Gynecol Reprod Bi...]
Detection of paternal alleles in maternal plasma for non-invasive prenatal diagnosis of beta-thalassemia: a feasibility study in southern Chinese.
Chan K, Yam I, Leung KY, Tang M, Chan TK, Chan V. Eur J Obstet Gynecol Reprod Biol. 2010 May; 150(1):28-33. Epub 2010 Mar 4.
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. [Proc Natl Acad Sci U S A. 2004]
MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis.
Ding C, Chiu RW, Lau TK, Leung TN, Chan LC, Chan AY, Charoenkwan P, Ng IS, Law HY, Ma ES, et al. Proc Natl Acad Sci U S A. 2004 Jul 20; 101(29):10762-7. Epub 2004 Jul 9.
Review Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma. [Hematol Oncol Clin North Am. 2...]
Review Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma.
Lo YM, Chiu RW. Hematol Oncol Clin North Am. 2010 Dec; 24(6):1179-86. Epub 2010 Sep 29.
Review Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art. [Expert Rev Mol Diagn. 2010]
Review Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art.
Bustamante-Aragones A, Gonzalez-Gonzalez C, de Alba MR, Ainse E, Ramos C. Expert Rev Mol Diagn. 2010 Mar; 10(2):197-205.

See reviews... See all...

Cited by 1 PubMed Central article

Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies. [Mediterr J Hematol Infect Dis....]
Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.
Rosatelli MC, Saba L. Mediterr J Hematol Infect Dis. 2009 Nov 15; 1(1):e2009011. Epub 2009 Nov 15.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Compound (MeSH Keyword)
PubChem chemical compound records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalasse...
Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.
Ann N Y Acad Sci. 2008 Aug ;1137:302-8.

PubMed
The potential of PARP inhibitors in genetic breast and ovarian cancers.
The potential of PARP inhibitors in genetic breast and ovarian cancers.
Ann N Y Acad Sci. 2008 Sep ;1138:136-45.

PubMed
Practical assessment of maternal cardiovascular risk in pregnancy.
Practical assessment of maternal cardiovascular risk in pregnancy.
Congenit Heart Dis. 2008 Sep-Oct ;3(5):308-16.

PubMed
Uniform Requirements for Manuscripts Submitted to Biomedical Journals. Internati...
Uniform Requirements for Manuscripts Submitted to Biomedical Journals. International Committee of Medical Journal Editors.
Reg Anesth. 1991 May-Jun ;16(3):181-5.

PubMed
High HDL-cholesterol in women with rheumatoid arthritis on low-dose glucocortico...
High HDL-cholesterol in women with rheumatoid arthritis on low-dose glucocorticoid therapy.
Eur J Clin Invest. 2008 Sep ;38(9):686-92.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single nucleotide polymorphisms.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 1 PubMed Central article

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information