title: [Clinical and genetic characteristics of a Chinese family of primary pulmonary hypertension].
abstract: OBJECTIVE
  To investigate the clinical and genetic characteristics of familial primary pulmonary hypertension (PPH) in Han nationality.
  
  
  METHODS
  The clinical and laboratory features of patients of familial PPH in a family of Han nationality in Zhumadian, Henan Province, including the propositus, female, aged 37, her 29-years-old brother, and her 14-years-old daughter, were summarized. Samples of peripheral blood were collected from all family members and 100 healthy volunteers. Genomic DNA of the peripheral white blood cells was extracted from the samples. Primers for the exon 1 - 13 including the lateral intron of bone morphogenetic protein receptor-II (BMPR2) gene were designed. Then the genomic DNA was amplified by PCR. The PCR products were purified, sequenced, and compared with the sequence of normal BMPR2 gene.
  
  
  RESULTS
  The 3 patients in this family, coming down with the illness at the ages of 35, 23, and 13 respectively, suffered from severe pulmonary hypertension and cor pulmonale with the clinical manifestations of cough, hemoptysis, heart enlargement, and cardiac function of class III. The propositus' mother came down with PPH in the age of 42 and died 1 year later. Sequence analysis showed codon 491 C-->T conversion in exon 11 in all three patients (heterozygote), which induces arginine to change to tryptophan (R491W). None BMPR2 mutation was identified in the 100 normal controls and other family members without PPH.
  
  
  CONCLUSIONS
  As in the white people, the missense mutation of R491W in BMPR2 gene is also one crucial pathogenetic gene of familial PPH in Han nationality. There is no normal carrier of such genotype.
authors.affiliation: Department of Internal Medicine, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.
authors.forename: Zhi-cheng
authors.initials: ZC
authors.lastname: Jing
authors.forename: Li-he
authors.initials: LH
authors.lastname: Lu
authors.forename: Yu-bao
authors.initials: YB
authors.lastname: Zou
authors.forename: Shi-jie
authors.initials: SJ
authors.lastname: You
authors.forename: Zhi-yan
authors.initials: ZY
authors.lastname: Han
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhang
authors.forename: Yue-jin
authors.initials: YJ
authors.lastname: Yang
authors.forename: Ru-tai
authors.initials: RT
authors.lastname: Hui
authors.forename: Xian-sheng
authors.initials: XS
authors.lastname: Cheng
mesh_terms: D000293:Adolescent; D000328:Adult; D052006:Bone Morphogenetic Protein Receptors, Type II; D002648:Child; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics
chemical_list: D017346:Protein Serine-Threonine Kinases; C498218:BMPR2 protein, human; D052006:Bone Morphogenetic Protein Receptors, Type II