Relationship between genotype and phenotype of high mutation in 20 patients with gitelman syndrome
Objective To analyze the mutation genotype and phenotype of pathogenic gene SLC12 A3 in 20 patients with Gitelman syndrome collected from Zaozhuang,and investigate the relationship between genotype and phenotype of the high mutation. Methods The enrolled included 20 patients with Gitelman syndrome c...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | zho |
| Published: |
Editorial Department of Journal of Clinical Nephrology
2019-01-01
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| Series: | Linchuang shenzangbing zazhi |
| Subjects: | |
| Online Access: | http://www.lcszb.com/thesisDetails?columnId=57913537&Fpath=home&index=0 |
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| Summary: | Objective To analyze the mutation genotype and phenotype of pathogenic gene SLC12 A3 in 20 patients with Gitelman syndrome collected from Zaozhuang,and investigate the relationship between genotype and phenotype of the high mutation. Methods The enrolled included 20 patients with Gitelman syndrome confirmed by gene sequencing from 2013 to 2016 in the Affiliated Hospital of Qingdao University and Central Hospital of Zaozhuang Mining Group. There were 13 males and 7 females,with an average age of（ 33 ± 12） years. The mutant genotype,clinical manifestation,serum potassium,serum magnesium,blood bicarbonate,plasma angiotensin,aldosterone,and 24 h urinary calcium/creatinine were analyzed in 20 patients. The mutant genotype was found in 20 patients. The general clinical data and laboratory test results of different genotypes were correspondingly analyzed and compared. Gene sequencing was performed on 50 unrelated healthy subjects to find if there were any mutations in the SLCl2 A3 gene. Results Mutations in the SLCl2 A3 gene were found in 20 patients. A total of 15 related mutations were identified,including 9 missense mutations（ Cys430 Gly,Leu571 Pro,Thr60 Met,Asp486 Asn,Glu429 Lys,Ala264 Gly,Ser283 Thr,Thr163 Met,Arg913 Gln）,5 deletion mutations（ 1384 delG,346-353 delACTGATGG,2883-2884 delAG,1740 delC,2877-2878 delAG）,1 insertion mutation（ 997 insCys）. Heterozygous mutations were found in 2 cases,homozygous mutations in 1 case,and heterozygous heterozygous mutations in 17 cases. The Ala264 gly mutation was found in 8 cases,and the incidence was 20. 5%. There was no significant difference in the clinical manifestations between Ala264 Gly carriers and patients with other mutations. There was no significant difference in serum potassium,serum magnesium,blood bicarbonate,plasma angiotensin,aldosterone,and 24-h urinary calcium/creatinine between Ala264 Gly carriers and patients with other mutations. Conclusions The Ala264 Gly mutation may be a high frequency mutation in two regions of this study. The clinical phenotype caused by high incidence mutation Ala264 Gly was not specific. |
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| ISSN: | 1671-2390 |