Result of carrier screening for spinal muscular atrophy among 3049 reproductive-age individuals from Yunnan region / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 384-388, 2020.
Article
in Zh
| WPRIM
| ID: wpr-828319
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To perform carrier screening for spinal muscular atrophy (SMA) among 3049 reproductive-age individuals from Yunnan region and determine the copy number of survival motor neuron (SMN) gene and carrier frequencies.@*METHODS@#Multiplex ligation-dependent probe amplification (MLPA) was used to determine the copy number of exon 7 of SMN1 and SMN2 genes and identify those with a single copy of SMN1 gene. Prenatal diagnosis was performed for couples whom were both found to be SMA carriers.@*RESULTS@#In total 62 SMA carriers were identified among the 3049 subjects, which yielded a carrier frequency of 1 in 49 (2.03%). No statistical difference was found in the carrier frequency between males and females (1.91% vs. 2.30%, P>0.05). Respectively, 1.3% (41/3049) and 0.69% (21/3049) of the carriers were caused by heterozygous deletion and conversion of the SMN1 gene. The average copy number for SMN1 alleles was 1.99. Two couples were found to be both as SMA carriers, for whom the birth of an affected fetus was avoided by prenatal diagnosis.@*CONCLUSION@#No difference was found in the carrier frequency of SMA-related mutations between the two genders in Yunnan region, which was in keeping to an autosomal recessive inheritance pattern. Determination of the carrier frequency for SMA and SMN gene variants may provide a basis for genetic counseling and prenatal diagnosis for the disease.
Full text:
1
Index:
WPRIM
Main subject:
Prenatal Diagnosis
/
Genetic Variation
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Muscular Atrophy, Spinal
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China
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Survival of Motor Neuron 1 Protein
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Survival of Motor Neuron 2 Protein
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Genetic Counseling
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Genetics
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Heterozygote
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Genetic Carrier Screening
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Female
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Humans
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Male
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Pregnancy
Country/Region as subject:
Asia
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article