Objective: To compare villus cell culture and karyotype analysis with single nucleotide polymorphism (SNP) microarray technology for the detection of chorionic villus chromosome in patients with retention of abortion.
Methods: Forty cases were analyzed with the two methods.
Results: Chorionic villus culturing was successful in 29 cases, among which 10 were found to have an abnormal karyotypes. For the SNP microarray analysis, all 40 cases were successful, among which 16 were shown to have an abnormal molecular karyotype.
Conclusion: SNP microarray technology is highly accurate and specific, which is particularly suitable for the detection of chromosomal deletions or duplications, uniparental disomy, low-percentage mosaicism and other chromosomal abnormalities. It has provided an effective supplement to the conventional chorionic villus culture and karyotype analysis.
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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2015.02.006 | DOI Listing |
Poult Sci
December 2024
Institute of Animal Science and Veterinary Medicine, Hainan Academy of Agricultural Sciences, Hainan, Haikou 571101, PR China. Electronic address:
In order to provide a low-cost, high efficient, and highly accurate tool for molecular breeding of Jiaji ducks, we constructed a cGPS(Genotyping by Pinpoint Sequencing of captured targets) 20 K liquid-phase microarray using resequencing data from this valuable poultry breed for the first time. The microarray contains 20,327 high-quality snp loci, mainly from the 30 Jiaji duck resequencing samples collected in this study, and some loci were supplemented from the 135 duck resequencing data from KUNMING INSTITUTE OF ZOOLOGY.CAS.
View Article and Find Full Text PDFForensic Sci Int Genet
December 2024
Department of Forensic Science, College of Criminal Justice, Sam Houston State University, Huntsville, TX, USA.
While skeletal remains are known for their resilience and often serve as the final source of information for unidentified human remains (UHRs), the traditional downstream processing of these samples is challenging due to their low template nature, DNA degradation, and the presence of PCR inhibitors, typically resulting in limited probative information. To address this issue, advanced genotyping methods can be explored to retrieve additional genetic information from these challenging samples to maximize investigative leads. Therefore, this study investigated the effectiveness of three advanced genotyping methods and assessed their suitability with compromised skeletal samples: 1) targeted next generation sequencing (NGS) of both STRs and SNPs using the ForenSeq® DNA Signature Prep chemistry, 2) targeted NGS of SNPs using the ForenSeq® Kintelligence kit, and 3) SNP genotyping using a microarray via the Infinium Global Screening Array.
View Article and Find Full Text PDFUps J Med Sci
December 2024
Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
In the 1980s, my research career begun with microbial DNA diagnostics at Orion Pharmaceutica in Helsinki, Finland, where I was part of an innovative team that developed novel methods based on the polymerase chain reaction (PCR) and the biotin-avidin interaction. One of our key achievements during this time was the invention of the solid-phase minisequencing method for genotyping single nucleotide polymorphisms (SNPs). In the 1990s, I shifted focus to human genetics, investigating mutations of the 'Finnish disease heritage'.
View Article and Find Full Text PDFAnimals (Basel)
December 2024
Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Key Laboratory of Yak Breeding Engineering of Gansu Province, Lanzhou 730050, China.
The tyrosine protein kinase () gene, as a member of the non-receptor tyrosine kinase Tec family, plays a vital role in signal transduction mediation. Phospholipase C epsilon 1 (), a membrane-associated enzyme, is of paramount importance for the differentiation of myoblasts and the normal functioning of muscle tissue. In recent years, both of these genes have been reported to be associated with the economic traits of animals.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
December 2024
Department of Genetics and Prenatal Diagnosis, Hainan Women and Children's Medical Center, Haikou, Hainan 570206, China.
Objective: To investigate the results of preimplantation genetic testing for monogenic diseases (PGT-M) in a Chinese pedigree affected with Primary carnitine deficiency (PCD).
Methods: A pedigree affected with PCD who visited Hainan Women and Children's Medical Center in April 2023 due to "SLC22A5 gene mutation found in offspring genetic testing and preparing for a second child" was selected as the study subject. Pathogenicity of the proband's variant sites was determined by referring to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG).
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