Details

Autor(en) / Beteiligte

• Weng, Miao-Shan
• Lin, Fen
• Zhang, Jin-Can
• Wu, Jiao-Ren
• Yu, Xue-Mei
• Yang, Li-Ye

Titel

Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency

Ist Teil von

• Sichuan da xue xue bao. Journal of Sichuan University. Yi xue ban, 2020-03, Vol.51 (2), p.252-256

Ort / Verlag

China

Erscheinungsjahr

2020

Quelle

MEDLINE

Beschreibungen/Notizen

• To analyze the phenotype and genotype in two pedigrees with hereditary coagulation factor Ⅺ (FⅪ) deficiency, and investigate the molecular mechanisms of FⅪ deficiency. Two patients with hereditary coagulation FⅪ deficiency were admitted to Chaozhou Central Hospital in Nov 2014 and Jan 2018. The prothrombin time (PT), activated partial thromboplastin time (APTT), FⅪ activity (FⅪ∶C) and FⅪ antigen (FⅪ∶Ag) were tested for phenotypic diagnosis. All the exons and exon-intron boundaries of FⅪ gene of proband were analyzed by PCR and sequencing. The family members were tested for the mutant site of proband. Then the mRNA of FⅪ in the proband was analyzed with RT-PCR. The proband-1 was a 7-year-old boy, PT was 10.7 s and APTT was 97.4 s (reference range: 9-12.8 s; 24-40 s), FⅪ∶C (0.6%) and FⅪ∶Ag<1% (reference range: 65%-150%; 72.1%-122.3%). The proband-2 was a 30-year-old female, and showed the PT (11.7 s), APTT (71.3 s), FⅪ∶C (0.7%) and FⅪ∶Ag<1%. FⅧ∶C, FⅨ∶C and FⅫ∶C of two proband were within the normal range. DNA s