Investigation on gene mutation from hereditary protein S deficiency pedigree / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
;
(12): 517-521, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-383688
ABSTRACT
Objective To identify the clinical phenotypic diagnosis and gene mutation detection of two kindreds with PS deficiency. MethodsPS A was measured by chromogenic substrate method;TPSAg, FPS Ag levels were measured by ELISA method; PS gene(PROS1 gene)was detected by amplifying 15 exons and flanking intron sequences from the propositus with PCR method. PCR products were purified and directly sequenced. Results For propositus 1,PS A was 48.6% ,TPS Ag was 136 mg/L, FPS Ag was 41 mg/L, PROSI gene exon 2 was in c. Heterozygous base substitutions was detected in C121T locus, which led to Arg-1Cys (R-1C) heterozygous roissense mutation encoded in PS proteins. For propositus 2, PS A was 29.2%, TPS Ag was 83 mg/L, FPS Ag was 26 mg/L, PROSI gene exon 14 was in c. Heterozygous base substitutions was identified in CI687T locus, in which Gln.522Stop heterozygous nonsense mutation was encoded in PS proteins. Conclusions c. C121T is a novel mutation locus detected in PROS1 gene. This heterozygous mutation could lead to type Ⅱ PS hereditary deficiency, while c. C1687T heterozygous mutation could bring about type Ⅰ PS hereditary deficiency.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Laboratory Medicine
Year:
2010
Type:
Article
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