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[A study on the conversion between SMN1 and SMN2 genes].

Authors: Qiannan, Guo; Guiyu, Lou; Li, Wang; Hongdan, Wang; Shixiu, Liao;

[A study on the conversion between SMN1 and SMN2 genes].

Abstract

To investigate the steady-state mechanism of interconversion between the SMN1 and SMN2 genes in a normal population.Fluorescence PCR capillary electrophoresis was employed to assess gene conversion and copy number variation of SMN1 and SMN2 in a cohort of 1,133 healthy individuals (including 256 males and 877 females) recruited between 2019 and 2023. This study was approved by the Ethics Committee of Henan Provincial People's Hospital (Ethics No.: 2019-134).No significant gender difference was observed in the single copy carrying rate of SMN1. The probability of conversion from SMN1 to SMN2 was determined to be 3.2% for females, 2.7% for males, and 3.1% for the overall population. The probability of conversion from SMN2 to SMN1 was found to be 5.5% for females, 6.3% for males, and 5.6% for the overall population. No statistically significant difference was found in the conversion probability between different genders (P > 0.05). Among the 99 cases of gene conversion, the SMN1 gene predominantly exhibited a copy number of 2 (97.0%), with the remainder having 3 copies (3%). The SMN2 gene primarily showed a copy number of 2 (72.7%), with the rest having 1 copy (27.3%).Gene conversion tends to normalize the copy numbers of both SMN1 and SMN2 genes towards 2. However, SMN1 exhibited a higher priority over SMN2, causing the copy numbers approaching two.

Related Organizations
Keywords

Male, Survival of Motor Neuron 2 Protein, Adult, DNA Copy Number Variations, Gene Conversion, Gene Dosage, Humans, Female, Middle Aged, Survival of Motor Neuron 1 Protein

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
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