Kinetics of acetyl coenzyme A: Arylamine N-acetyltransferase from human cumulus cells

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Title:	Kinetics of acetyl coenzyme A: Arylamine N-acetyltransferase from human cumulus cells
Authors:	Chang, CC;Hsieh, YY;Chung, JG;Tsai, HD;Tsai, CH
Contributors:	附設醫院婦產部;China Med Coll Hosp, Dept Obstet & Gynecol, Taichung, Taiwan
Date:	2001
Issue Date:	2010-09-24 14:48:13 (UTC+8)
Publisher:	KLUWER ACADEMIC/PLENUM PUBL
Abstract:	Mutations of the telomeric survival motor neuron gene (SMN1) are related to spinal muscular atrophy (SMA) However, no phenotype-genotype correlation has been observed since the SMN1 gene is lacking in the majority of patients affected with either the severe form (type I) or the milder forms (types II and III). Here, we analyze the SMN, NAIP and P44 genes in 132 Chinese SMA patients and their families. At least three types of normal allele, and four types of mutant allele were found in this study. The combination of one normal allele with one mutant allele resulted in carriers of different types, and the combination of different mutant alleles accounted for the different genotypes among different types of SMA. Deletions of mutant alleles can be further subgrouped into four types, which includes involving SMN1, SMN1 and NAIP(T) (telomeric portion of NAIP gene), SMN1 and NAIP(T) and P44(T) (telomeric portion of P44 gene), and SMN1 and SMN2 (centromeric portion of SMN gene). Some of the severe (type 1) SMA cases correlated with the extent of deletions in the SMN, NAIP and P44 genes or the dosage of SMN gene when both SMN1 and SMN2 are deleted. We also found two novel point mutations, an A insertion at codon 8 (AGT --> AAGT) and an A substitution at codon 228 (TTA --> TAA). (C) 2001 Elsevier Science B.V. All rights reserved.
Relation:	JOURNAL OF ASSISTED REPRODUCTION AND GENETICS 18(9):512-518
Appears in Collections:	[China Medical University Hospital] Jurnal articles

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