[Analysis of LBR gene mutation in a pedigree affected with Pelger-Huёt anomaly].

Objective: To detect mutation of LBR gene in a pedigree affected with Pelger-Huёt anomaly (PHA) and to explore its clinical characteristics.

Methods: Genomic DNA was extracted from the pedigree and healthy controls. The 14 exons of the LBR gene were subjected to PCR amplification and Sanger sequencing.

[Clinical features and genetic analysis of a pedigree affected with non-muscle myosin heavy chain 9 gene related disease].

Objective: To identify the mutation type of non-muscle myosin heavy chain 9 (MYH9) gene and investigate the clinical features of a pedigree affected with MYH9 gene-related disease.

Methods: Peripheral blood samples of the proband and his family members were collected. Routine blood tests were performed, which included platelet counting and Wright's staining to observe the granulocyte inclusions and giant platelets.