Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China

To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation betwee...

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Veröffentlicht in:	Journal of human genetics 2020-05, Vol.65 (5), p.469-473
Hauptverfasser:	Cao, Yanyan, Qu, Yujin, Bai, Jinli, Cheng, Miaomiao, Jin, Yuwei, Wang, Hong, Song, Fang
Format:	Artikel
Sprache:	eng
Schlagworte:	Association analysis Atrophy Child Children China Copy number Families & family life Family Gene Dosage Genes Genetics Genotype & phenotype Humans Male Neuromuscular diseases Parents & parenting Pediatrics SMN protein Spinal Muscular Atrophies of Childhood - genetics Spinal Muscular Atrophies of Childhood - pathology Spinal muscular atrophy Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - genetics
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Zusammenfassung:	To define the relationship between the survival motor neuron 1 gene (SMN1) and SMN2, and explore the variability of these two genes within the generations, SMN1 and SMN2 copy numbers were determined for 227 SMA families. The association analysis indicated that there was a negative correlation between the copy number of SMN1 and SMN2 (Spearman = -0.472, P
ISSN:	1434-5161 1435-232X
DOI:	10.1038/s10038-020-0730-1