title: [Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy].
abstract: OBJECTIVE
  To identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.
  
  
  METHODS
  Whole 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).
  
  
  RESULTS
  A 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.
  
  
  CONCLUSIONS
  Primary hypertrophic osteoarthropathy in this family is caused by a homozygous mutation (c.310_311delCT) in the HPGD gene.
authors: Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China. zhaoyunzhang@fudan.edu.cn; xpliu1228@fudan.edu.cn.
authors: Lei
authors: L
authors: Wang
authors: Juan
authors: J
authors: Yu
authors: Yiming
authors: Y
authors: Li
authors: Xiuping
authors: X
authors: Liu
authors: Zhaoyun
authors: Z
authors: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D001483:Base Sequence; D015232:Dinoprostone / Q000652:urine; D005260:Female; D006801:Humans; D006911:Hydroxyprostaglandin Dehydrogenases / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics; D010004:Osteoarthropathy, Primary Hypertrophic / Q000175:diagnosis / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree
chemical_list: D027361:Organic Anion Transporters; C503526:SLCO2A1 protein, human; D006911:Hydroxyprostaglandin Dehydrogenases; C035859:15-hydroxyprostaglandin dehydrogenase; D015232:Dinoprostone