2.Lipoprotein glomerulopathy: a case report.
Hong-ling HAN ; Shan LIN ; Lin SONG ; Li-sha SUN ; Hui LIANG ; Li-quan ZHAO ; De-pei ZHAI
Chinese Journal of Pathology 2005;34(7):443-444
3.Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy.
Hong-ling HAN ; Shan LIN ; Li-sha SUN ; Peng ZHANG ; De-pei ZHAI
Chinese Journal of Medical Genetics 2012;29(2):141-144
OBJECTIVETo identify potential mutation of apolipoprotein E (apoE) gene in a male patient affected with lipoprotein glomerulopathy (LPG), his mother and his sister.
METHODSThe patient and his mother both had histologically confirmed LPG. His sister and his father were asymptomatic. Genomic DNA was extracted from peripheral blood samples. PCR products of the coding region of exons 3 and 4 of the apoE gene were cloned into a pTA2 vector and sequenced. Genetic variations of the apoE gene were detected using PCR and restriction fragment length polymorphism (RFLP).
RESULTSAn apoE gene mutation was identified in the patient's family. Sequence analysis confirmed a 9-bp deletion in the exon 4 of apoE gene from nt 484 to 492. The 9-bp deletion resulted in loss of 3 amino acids at positions 143-145. The sister of the propositus carried the same mutation, though she had neither proteinuria nor elevated plasma apoE. Sequence analysis of exon 3 showed no abnormality. No abnormalities were found in the father's apoE gene sequence. Analysis of genetic variations of the apoE gene by PCR and RFLP confirmed a 57 bp fragment consistent with the 9-bp deletion in exon 4. The father had a normal ε 3 ε 3 genotype.
CONCLUSIONThe 9 bp deletion of apoE may be associated with the pathogenesis of LPG.
Adolescent ; Apolipoproteins E ; blood ; genetics ; Exons ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Kidney Diseases ; blood ; genetics ; Kidney Glomerulus ; metabolism ; pathology ; Lipoproteins ; blood ; Male ; Mutation ; Pedigree
4.Comparison of next-generation flow cytometry and next-generation sequencing in the assessment of minimal residual disease in multiple myeloma.
Qing Qing WANG ; Li YAO ; Ming Qing ZHU ; Ling Zhi YAN ; Song JIN ; Jing Jing SHANG ; Xiao Lan SHI ; Ying Ying ZHAI ; Shuang YAN ; Wei Qin YAO ; Hong Ying YOU ; De Pei WU ; Cheng Cheng FU
Chinese Journal of Hematology 2023;44(4):328-332