Wang Lei, Yu Juan, Li Yiming, Liu Xiuping, Zhang Zhaoyun
Department of Endocrinology, Huashan Hospital, Fudan University, Shanghai 200040, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):213-7. doi: 10.3760/cma.j.issn.1003-9406.2015.02.013.
To identify the genetic cause for a Chinese Han family affected with primary hypertrophic osteoarthropathy.
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).
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.
Primary hypertrophic osteoarthropathy in this family is caused by a homozygous mutation (c.310_311delCT) in the HPGD gene.
确定一个患原发性肥厚性骨关节病的中国汉族家庭的遗传病因。
采集该家庭中一名患者及7名未患病亲属的全血和尿液样本。采用聚合酶链反应扩增患者HPGD和SLCO2A1基因的编码序列及内含子/外显子边界，并进行测序。随后验证亲属的基因型。采用酶联免疫吸附测定（ELISA）法检测尿前列腺素水平。
在患者中检测到HPGD基因纯合2碱基缺失（c.310_311delCT，或p.L104AfsX3），在亲属中鉴定出5名杂合携带者。患者尿前列腺素E2（PGE2）水平显著升高（P<0.01），而PGE-M水平显著降低（P<0.01）。
该家庭的原发性肥厚性骨关节病由HPGD基因的纯合突变（c.310_311delCT）引起。
