Familiar ochronotic arthropathy-caused by a gene mutation traced three hundred years

被引：8

作者：

Toth, Kalman ^{[1
]}

Kiss-Laaszlo, Zsuzsanna ^{[2
]}

Lenart, Endre ^{[3
]}

Juhasz, Katalin ^{[4
]}

Takacs, Katalin ^{[5
]}

Bender, Tamas ^{[6
]}

Szabo, Janos ^{[2
]}

机构：

[1] Univ Szeged, Dept Orthoped, Fac Med, H-6725 Szeged, Hungary

[2] Univ Szeged, Dept Med Genet, Fac Med, H-6720 Szeged, Hungary

[3] Cty Hosp Kecskemet, Dept Orthoped, H-6000 Kecskemet, Hungary

[4] Rheumatol Outpatient Clin Kecskemet, H-6000 Kecskemet, Hungary

[5] Rheumatol Outpatient Clin Kiskunhalas, H-6400 Kiskunhalas, Hungary

[6] Polyclin Hosp Bros St John God Budapest, H-1027 Budapest, Hungary

来源：

JOINT BONE SPINE | 2010年 / 77卷 / 04期

关键词：

Alkaptonuria; Ochronosis; HGD mutation; Allele specific PCR amplification; ALKAPTONURIA; ALCAPTONURIA; HGO;

D O I：

10.1016/j.jbspin.2010.03.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Authors trace an ochronotic Hungarian family, which moved from Slovakia to Hungary 300 years ago. As the family members lived in a relatively close village community the gene mutation had been survived silently for ages before the clinical symptoms developed. Family tree analysis could detect with the use of allele specific PCR amplification-the p.G161R mutation of the homogentisic acid 1,2-dioxygenase (HGD) gene, which resulted in a specific genotype appearing in the Slovak population. We found a heterozygote member of this family who has children with an alkaptonuria-homozygote and known-heterozygote genotypes so there would be a high risk of alkaptonuria in their offsprings. Therefore genetic counselling is highly recommended to minimize the risk factors. (C) 2010 Societe francaise de rhumatologie. Published by Elsevier Masson SAS. All rights reserved.

引用

页码：355 / 357

页数：3