1.The concentrition change of serum 5-Hydroxy tryptamine and clinical symptoms improvement in primary premature ejaculation with the treatment of paroxitine
Bing LUO ; Jiacai LONG ; Wei LI ; Ke ZHU ; Sanrong LIU ; Chao ZHANG ; Xin LI
International Journal of Laboratory Medicine 2015;(14):2056-2058
Objective To investigate the relationship between concentration change of serum 5‐hydroxy tryptamine and clinical symptoms improvement in primary premature ejaculation with the treatment of paroxitine .Methods 81 cases of lifelong PE and an intra‐vaginal ejaculation latency time (IELT ) ≤60 s were included in this study .Subjects were divided into 2 groups according to the IELT ,group A (IELT≤30 s) and group B (30 s
2.The Novel Pathogenic Mutation c.849dupT in BRCA2 Contributes to the Nonsense-Mediated mRNA Decay of BRCA2 in Familial Breast Cancer.
Sanrong LI ; Jing MA ; Caiying HU ; Xing ZHANG ; Deyong XIAO ; Lili HAO ; Wenjun XIA ; Jichun YANG ; Ling HU ; Xiaowei LIU ; Minghui DONG ; Duan MA ; Rensheng LIU
Journal of Breast Cancer 2018;21(3):330-333
In this study, we used next-generation sequencing methods to screen 300 individuals for BRCA1 and BRCA2. A novel mutation (c.849dupT) in BRCA2 was identified in a female patient and her unaffected brothers. This mutation leads to the truncation of BRCA2 functional domains. Moreover, BRCA2 mRNA expression levels in mutation carriers are significantly reduced compared to noncarriers. Immunofluorescence and western blot assays showed that this mutation resulted in reduced BRCA2 protein expression. Thus, we identified a novel mutation that damaged the function and expression of BRCA2 in a family with breast cancer history. The pedigree analysis suggested that this mutation is strongly associated with familial breast cancer. Genetic counsellors suggest that mutation carriers in this family undergo routine screening for breast cancer, as well as other malignancies, such as prostate and ovarian cancer. The effects of this BRCA2 mutation on drug resistance should be taken into consideration during treatment.
Blotting, Western
;
BRCA2 Protein
;
Breast Neoplasms*
;
Breast*
;
Drug Resistance
;
Female
;
Fluorescent Antibody Technique
;
Genes, BRCA2
;
High-Throughput Nucleotide Sequencing
;
Humans
;
Mass Screening
;
Nonsense Mediated mRNA Decay*
;
Ovarian Neoplasms
;
Pedigree
;
Prostate
;
RNA, Messenger
;
Siblings