Primer on Medical Genomics Part II: Background Principles and Methods in Molecular Genetics

Tefferi, Ayalew; Wieben, Eric D.; Dewald, Gordon W.; Whiteman, David A.H.; Bernard, Matthew E.; Spelsberg, Thomas C.

doi:10.4065/77.8.785

Cited by 27 publications

(12 citation statements)

References 254 publications

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“…We were only able to consider a limited number of non‐coding variants for each of the three genes in the recursive partitioning analysis. Non‐coding variants, however, may alter protein structure and function through their roles in transcription 37. Given the inter‐marker disequilibrium observed, additional markers should be considered to capture and assess remaining haplotype diversity.…”

Section: Discussionmentioning

confidence: 99%

Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease

et al. 2003

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We conducted a case-control study of the alpha-synuclein-interacting protein gene (SNCAIP, also known as synphilin-1) and Parkinson's disease (PD). A total of 319 PD cases and 195 controls were genotyped for four SNCAIP variants, including a microsatellite repeat in intron 4 and three restriction fragment length polymorphisms (RFLP) proximal to the 5' terminal of exons 1, 4, and 6. None of the variants were found associated with PD overall. Global score statistics were not significant for four, three, and two loci haplotypes. All four loci were in linkage disequilibrium for cases, controls, or both groups combined (P < 0.0001). Recursive partitioning showed no interactions between variants of the SNCAIP gene and variants of the alpha-synuclein gene (SNCA) or the parkin (PARK2) gene.

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Section: Discussionmentioning

confidence: 99%

Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease

et al. 2003

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“…It detects BCR-ABL1 gene through specific amplification of complementary DNA (cDNA) transcripts from RNA. Total RNA is extracted from blood or BM and then reverse transcribed into cDNA using an oligo primer; ultimately, target DNA sequence is generated using specific primers through PCR reaction involving a process of DNA denaturing, annealing and primer extension [22]. In nested PCR, two pairs of primers are used.…”

Section: Molecular Testingmentioning

confidence: 99%

A review of the challenge in measuring and standardizing BCR-ABL1

Cui

et al. 2017

Clinical Chemistry and Laboratory Medicine (CCLM)

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Breakpoint cluster region-Abelson (BCR-ABL1) translocation is the characteristic sign of chronic myeloid leukemia (CML). The quantitation of BCR-ABL1 messenger RNA is requisite for patients with CML, and reverse-transcription real-time quantitative polymerase chain reaction (RQ-PCR) is the method used most extensively in testing laboratories worldwide. Nevertheless, substantial variation in RQ-PCR results from different laboratories makes interlaboratory comparability inconvincible owing to the lack of standardization. To facilitate interlaboratory comparative assessment and international standardization, an international scale (IS) for BCR-ABL1 was proposed. The laboratory-specific conversion factors derived from the IS can convert local different values to the IS without changing procedures. The standardization of BCR-ABL1 also includes the whole analytical process, so it is noteworthy to pay attention to the quality control before BCR-ABL1 quantitative analysis. More importantly, the World Health Organization has validated a first genetic reference panel which is limited to the manufacturers to produce and calibrate secondary reference reagents. Also, a certified reference plasmid, ERM-AD623, was internationally accepted. This article mainly focuses on BCR-ABL1 measurement and these standardization efforts in progress.

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“…The largest gene is dystrophin, with 2.4 million bases. Chromosome 1 has the most genes; the Y chromosome has the fewest . The most highly repeated DNA sequences are called “satellite DNA” because they can be easily separated from other DNA.…”

Section: The Chromosomementioning

confidence: 99%

Migraine Genetics – A Review: Part I

Silberstein

Dodick

2013

Headache

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Significant progress in molecular genetics has advanced our understanding of the genetic basis of migraine. The fundamentals of molecular genetics, and the recent advances in the field, are important for clinicians to understand, as they provide a foundation for critical appraisal of the literature, unprecedented insights into the pathogenesis of the disorder, and reveal promising treatment targets for future drug development. This paper provides a primer of molecular genetics and will be followed by a companion paper on the genetic advances in migraine, the methodology of genome wide association studies, and the potential clinical implications.

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Primer on Medical Genomics Part II: Background Principles and Methods in Molecular Genetics

Cited by 27 publications

References 254 publications

Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease

Case‐control study of the α‐synuclein interacting protein gene and Parkinson's disease

A review of the challenge in measuring and standardizing BCR-ABL1

Migraine Genetics – A Review: Part I

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