Deletion of SMN and NAIP genes in Korean patients with spinal muscular atrophy.
10.3346/jkms.2000.15.1.93
- Author:
Sue SHIN
1
;
Sung Sup PARK
;
Yong Seung HWANG
;
Kwang Woo LEE
;
Sun Gun CHUNG
;
Young Joon LEE
;
Myoung Hee PARK
Author Information
1. Department of Clinical Pathology, Seoul National University College of Medicine, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Muscular Atrophy;
Neuromuscular Manifestations;
Gene Deletion
- MeSH:
Adolescence;
Exons;
Female;
Gene Deletion*;
Human;
Infant;
Male;
Muscular Atrophy, Spinal/genetics*;
Nerve Tissue Proteins/genetics*;
Polymerase Chain Reaction
- From:Journal of Korean Medical Science
2000;15(1):93-98
- CountryRepublic of Korea
- Language:English
-
Abstract:
Childhood-onset proximal spinal muscular atrophies (SMAs) are an autosomal recessive, clinically heterogeneous group of neuronopathies characterized by selective degeneration of anterior horn cells. The causative genes to be reported are survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes. The deletion of telomeric copy of SMN (SMN(T)) gene was observed in over 95% of SMAs. The deletion rate of NAIP gene is 20-50% according to disease severity. The objective of this article is to genetically characterize the childhood-onset spinal muscular atrophy in Koreans. Five Korean families (14 constituents containing 5 probands) with SMA were included in this study. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the deletion analysis of SMN(T). Multiplex PCR method was used for NAIP analysis. Four probands showed deletion of SMNT gene. Deletion of SMN(C) (centromeric SMN) gene was found in one proband who did not show the deletion of SMN(T) gene and in the father of one proband who showed the deletion of SMN(T) gene. The deletion of NAIP gene was not found among all the studied individuals. The extent of deletion in Koreans was smaller than that in other studied population. PCR-RFLP deletion analysis can be applied to diagnose SMA and make a prenatal diagnosis.
