Population data studies for D1S80 and ApoB were carried out on a caucasian population sample from Hungary of 229 and 222 unrelated individuals, respectively. We observed 26 different alleles for D1S80 and 13 for ApoB. The allele frequencies found are similar to those reported in the literature for European caucasians. No evidence of significant deviations from Hardy-Weinberg equilibrium were observed for both AMPFLP systems.
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Front Pediatr
August 2022
Department of Biomedical Sciences, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
Background: Thalassemia is a monogenic, autosomal recessive, inherited disorder of the red blood cells caused by mutations or deletions in the globin gene. Approximately 6-10% of the Indonesian population carries the β-globin gene mutation; however, premarital screening is rarely conducted, and antenatal screening is optional. We explored the use of cell-free fetal DNA (cffDNA) as a potential non-invasive method of detecting the fetal β-globin gene mutation prenatally in pregnant women.
View Article and Find Full Text PDFGenet Test Mol Biomarkers
June 2022
Faculty of Associated Medical Sciences, Centre for Research and Development of Medical Diagnostic Laboratories, Khon Kaen University, Khon Kaen, Thailand.
Prenatal diagnosis of genetic disease requires DNA analysis of fetal tissue of a responsible gene. Accurate diagnosis is useful for the appropriate management of pregnancy. However, maternal contamination of fetal specimens poses a high preanalytical risk of prenatal misdiagnosis.
View Article and Find Full Text PDFForensic Sci Int Genet
July 2021
Institute of Environmental Science and Research Limited, Private Bag 92021, Auckland 1142, New Zealand; University of Auckland, Department of Statistics, Auckland, New Zealand.
Cold case reinvestigations are a common occurrence. Occasionally some of the original work was conducted up to 30 years ago using profiling systems of the early 1990s, which targeted HLA-DQA1, ApoB, D1S80 and D17S5. When contemporary work is carried out, if a suspect is identified they will be profiled in contemporary profiling kits such as GlobalFiler.
View Article and Find Full Text PDFChimerism
December 2013
Stem Cell Transplant Chimerism Laboratory, Department of Hematology-Oncology Transplant, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
Post-hematopoietic stem cell transplantation (HSCT) chimerism monitoring is important to assess relapse and therapeutic intervention. The purpose of our study is to compare two methods variable number tandem repeats (VNTR) vs. quantitative real- time polymerase chain reaction (qPCR) in terms of determining chimerism.
View Article and Find Full Text PDFInt J Lab Hematol
April 2011
Paediatric Oncology, University of Malaya, Kuala Lumpur, Malaysia.
Introduction: Analysis of variable number tandem repeats (VNTRs) by polymerase chain reaction (PCR) is a common method used to predict engraftment status in post-allogeneic haematopoeitic stem cell transplantation (HSCT) patients. Different populations have different copies of repeated DNA sequence and hence, different percentage of informativeness between patient and donor.
Methods: PCR amplification of four highly polymorphic VNTR markers (YNZ-22, D1S80, D1S111 and ApoB) was conducted on 60 patient-donor pairs.
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