Trial reportJournal of Korean medical science2004
Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR.
Trial report in Journal of Korean medical science, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Comparative study of third-generation sequencing-based CASMA-trio and STR linkage analysis for identifying SMN1 2 + 0 carriers.Scientific reports · 2025Article
- Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.Molecular genetics & genomic medicine · 2025Article
- NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.Biochemical genetics · 2024Article
- Carrier frequency of Spino-muscular atrophy in individuals of a reproductive age group from North India.Journal of family medicine and primary care · 2022Article
- New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study.International journal of neonatal screening · 2022Article
- SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODE-SEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the "2+0" genotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population.Annals of laboratory medicine · 2020Article
- Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review.Orphanet journal of rare diseases · 2017Review
- Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.Annals of neurology · 2014Article
- Determination of exon 7 SMN1 deletion in Iranian patients and heterozygous carriers by quantitative real-time PCR.Journal of genetics · 2011Article
- Article
- Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.Journal of inherited metabolic disease · 2010Article
- Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population.European journal of human genetics : EJHG · 2010Article
- Robust quantification of the SMN gene copy number by real-time TaqMan PCR.Neurogenetics · 2007Article
- Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.International journal of fertility & sterilityArticle
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients with SMA and their 24 parents, as well as 326 healthy normal individuals. The copy number of the SMN1 gene was determined by the comparative threshold cycle (Ct) method and albumin was used as a reference gene. The homozygous SMN1 deletion ratio of patients was 0.00 and the hemizygous SMN1 deletion ratio of parents ranged from 0.39 to 0.59. The deltadelta Ct ratios of 7 persons among 326 normal individuals were within the carrier range, 0.41-0.57. According to these data, we estimated the carrier and disease prevalence of SMA at 1/47 and 1/8,496 in Korean population, respectively. These data indicated that there would be no much difference in disease prevalence of SMA compared with western countries. Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.