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the phenotype by SMN2[J]. Genet Med,2002,4(1):20- MALDI⁃TOF mass spectrometry for spinal muscular atro⁃
26 phy genetic testing[J]. Clin Chim Acta,2022,532:45-52
[5] ALÍAS L,BERNAL S,FUENTES⁃PRIOR P,et al. Muta⁃ [16] GAMBARDELLA A,MAZZEI R,TOSCANO A,et al. Spi⁃
tion update of spinal muscular atrophy in Spain:molecu⁃ nal muscular atrophy due to an isolated deletion of exon 8
lar characterization of 745 unrelated patients and identifi⁃ of the telomeric survival motor neuron gene[J]. Ann Neu⁃
cation of four novel mutations in the SMN1 gene[J]. Hum rol,1998,44(5):836-869
Genet,2009,125(1):29-39 [17] MAITI D,BHATTACHARYA M,YADAV S. Isolated ex⁃
[6] SUGARMAN E A,NAGAN N,ZHU H,et al. Pan⁃ethnic on 8 deletion in type 1 spinal muscular atrophy with bila⁃
carrier screening and prenatal diagnosis for spinal muscu⁃ teral optic atrophy:unusual genetic mutation leading to
lar atrophy:clinical laboratory analysis of >72,400 speci⁃ unusual manifestation?[J]. J Postgrad Med,2012,58(4):
mens[J]. Eur J Hum Genet,2012,20(1):27-32 294-295
[7] PRIOR T W,Professional Practice and Guidelines Com⁃ [18] LORSON C L,HAHNEN E,ANDROPHY E J,et al. A
mittee. Carrier screening for spinal muscular atrophy[J]. single nucleotide in the SMN gene regulates splicing and
Genet Med,2008,10(11):840-842 is responsible for spinal muscular atrophy[J]. Proc Natl
[8] 陈红苓,孟英韬,舒剑波,等. 运用MLPA进行脊肌萎缩 Acad Sci USA,1999,96(11):6307-6311
症的基因诊断[J]. 天津医药,2012,40(11):1095-1098 [19] MONANI U R,LORSON C L,PARSONS D W,et al. A
[9] 邓坤仪,彭建明,范汉恭,等. 荧光定量PCR快速筛查脊 single nucleotide difference that alters splicing patterns
髓性肌肉萎缩症 SMN1 致病基因携带者[J]. 国际检验 distinguishes the SMA gene SMN1 from the copy gene
医学杂志,2016,37(21):2983-2984 SMN2[J]. Hum Mol Genet,1999,8(7):1177-1183
[10] SU Y N,HUNG C C,LI H,et al. Quantitative analysis of [20] SPITALI P,AARTSMA⁃RUS A. Splice modulating thera⁃
SMN1 and SMN2 genes based on DHPLC:a highly effi⁃ pies for human disease[J]. Cell,2012,148(6):1085-
cient and reliable carrier⁃screening test[J]. Hum Mutat, 1088
2005,25(5):460-467 [21] PRIOR T W,KRAINER A R,HUA Y,et al. A positive
[11] LIN Y M,LIN C H,YIN X S,et al. Newborn screening for modifier of spinal muscular atrophy in the SMN2 gene
spinal muscular atrophy in China using DNA mass spec⁃ [J]. Am J Hum Genet,2009,85(3):408-413
trometry[J]. Front Genet,2019,10:1255 [22] IASCONE D M,HENDERSON C E,LEE J C. Spinal mus⁃
[12] PARK S,LEE H,SHIN S,et al. Analytical validation of cular atrophy:from tissue specificity to therapeutic strate⁃
the droplet digital PCR assay for diagnosis of spinal mus⁃ gies[J]. F1000Prime Rep,2015,7:4
cular atrophy[J]. Clin Chim Acta,2020,510:787-789 [23] SCHRANK B,GÖTZ R,GUNNERSEN J M,et al. Inacti⁃
[13] LI L,ZHOU W J,FANG P,et al. Evaluation and compari⁃ vation of the survival motor neuron gene,a candidate
son of three assays for molecular detection of spinal mus⁃ gene for human spinal muscular atrophy,leads to massive
cular atrophy[J]. Clin Chem Lab Med,2017,55(3):358- cell death in early mouse embryos[J]. Proc Natl Acad Sci
367 USA,1997,94(18):9920-9925
[14] PRIOR T W,NAGAN N,SUGARMAN E A,et al. Techni⁃ [24] HSIEH⁃LI H M,CHANG J G,JONG Y J,et al. A mouse
cal standards and guidelines for spinal muscular atrophy model for spinal muscular atrophy[J]. Nat Genet,2000,
testing[J]. Genet Med,2011,13(7):686-694 24(1):66-70
[15] JIN W J,YANG Z Q,TANG X J,et al. Simultaneous [收稿日期] 2023-05-31
quantification of SMN1 and SMN2 copy numbers by (责任编辑:蒋 莉)