Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy.
- VernacularTitle:一个中国汉族原发性肥大性骨关节病家系的基因诊断
- Author:
Lei WANG
1
,
2
,
3
;
Juan YU
;
Yiming LI
;
Xiuping LIU
;
Zhaoyun ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; ethnology; genetics; Base Sequence; Dinoprostone; urine; Female; Humans; Hydroxyprostaglandin Dehydrogenases; genetics; Male; Molecular Sequence Data; Mutation; Organic Anion Transporters; genetics; Osteoarthropathy, Primary Hypertrophic; diagnosis; enzymology; ethnology; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2015;32(2):213-217
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.
METHODSWhole blood and urine samples were collected from a patient and 7 unaffected relatives of the family. The coding sequences and intron/exon boundaries of HPGD and SLCO2A1 genes of the patient were amplified with polymerase chain reaction and sequenced. The genotypes of relatives were subsequently verified. Urinary prostaglandin level was measured with enzyme-linked immunosorbent assay (ELISA).
RESULTSA homozygous 2-bp deletion in HPGD gene (c.310_311delCT, or p.L104AfsX3) was detected in the patient, and 5 heterozygous carriers were identified in the relatives. The urinary prostaglandin E2 (PGE2) level was significantly elevated (P<0.01), while PGE-M was significantly reduced (P<0.01) in the patient.
CONCLUSIONPrimary hypertrophic osteoarthropathy in this family is caused by a homozygous mutation (c.310_311delCT) in the HPGD gene.
