RESUMO
【Objective】 To explore the molecular hereditary and frequency of Jk(a-b-) in blood donors in Yichang. 【Methods】 A total of 49 999 samples from Yichang Red Cross Central Blood Station were screened for Jk(a-b-) by urea hemolysis test(2 mol /L). The phenotypes of JK (a-b -) probands and their families were confirmed by monoclonal anti-Jka and anti-Jkb, and the whole exon of SLC14A1 gene was sequenced. 【Results】 The frequency of Jk(a-b-) in Yichang blood donors was 0.004% (2/49 999), and the exon sequencing of SLC14A1 gene confirmed that both two probands were JK*02N.01 caused by c. 342-1G>A homozygous mutation.Besides, JK*01W.01 allele was observed in the pedigree analysis, and weak expression of Jka was found in 4 out of 11 family members. 【Conclusion】 The frequency of JK (a-b -) in Yichang blood donors is similar to those in Shanghai 0.004%(2/48 400), and both caused by JK * 02N.01 allele with high frequency in Southeast Asia. The epidemiological survey of JK * 01w.01 allele frequency should be further performed.
RESUMO
OBJECTIVE： To analyze the formulation regularity of Chinese patent medicines containing Paeonia lactiflora， and to provide evidence for modern clinical application and R&D of P. lactiflora. METHODS： The formulations of Chinese patent medicine containing P. lactiflora were collected from Chinese Materia Medica Preparation and 2015 edition of Chinese Pharmacopeia. Statistical analysis was performed on the frequency of medicinal material， channel tropism， distribution of attending syndromes and attending diseases， core medicine combination （support degrees were set as 10％， 20％， 30％ and confidence degree was 0.9） by using data mining methods such as descriptive statistics and association rule analysis in TCM Inheritance System V 2.5； the formulation regularity of common attending syndromes and attending diseases （support degrees were set as 20％， 30％， 40％ and confidence degree was 0.9） was analyzed. RESULTS： A total of 600 Chinese patent medicine formulations contained P. lactiflora， involving 673 ingredients. The main medicinal properties in Chinese patent medicines containing P. lactiflora were warm， followed by cold and neutral. The main medicinal flavor was sweet， followed by bitter and pungent. The main channel tropism was spleen， liver and heart channel. There were 165 kinds of main treatment diseases （menstrual disorder， dysmenorrhea， dizziness） and 159 main treatment syndromes （insufficiency of qi and blood， qi stagnation and blood stasis， liver and kidney deficiency）. Under the condition of 30％ support degree and 0.9 confidence degree， there were 20 core combination of Chinese patent medicine formulations containing P. lactiflora （Glycyrrhiza uralensis-P. lactiflora， Angelica sinensis-P. lactiflora， P. lactiflora-Poria cocos） and 19 association rules among drugs. Under the condition of 40％ support degree and 0.9 confidence degree， there were 8 core medicines in Chinese patent medicines containing P. lactiflora for menstrual disorders （such as P. lactiflora， Cyperus rotundus， A. sinensis）， 9 core medicines for dizziness （such as P. lactiflora， Rehmannia glutinosa， A. sinensis）， 9 core medicines for qi and blood deficiency （such as P. lactiflora， Atractylodes macrocephala， P. cocos）， and 10 core medicines for qi stagnation and blood stasis syndrome （such as P. lactiflora， Aucklandia lappa， G. uralensis）. CONCLUSIONS： In this study， data mining was used to analysis the main symptoms， compatibility characteristics and formulation rules of Chinese patent medicines containing P. lactiflora， which can provide a basis for the modern clinical application and new drug development of P. lactiflora.
RESUMO
<p><b>OBJECTIVE</b>To analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.</p><p><b>METHODS</b>The SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array).</p><p><b>RESULTS</b>G-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810.</p><p><b>CONCLUSION</b>The duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.</p>
Assuntos
Adulto , Feminino , Humanos , Bandeamento Cromossômico , Transtornos Cromossômicos , Genética , Cromossomos Humanos Par 15 , Genética , Rearranjo Gênico , Hibridização in Situ Fluorescente , CariotipagemRESUMO
<p><b>OBJECTIVE</b>To analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.</p><p><b>METHODS</b>The diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. After finding the mutation in the proband, the same mutation was screened among other family members. The mutation was also confirmed with PCR-restriction fragment length polymorphism (RFLP), with which 100 unrelated healthy controls were examined.</p><p><b>RESULTS</b>A novel heterozygous nonsense mutation c.2891T>G (L964X) of the APC gene was identified in this pedigree. The mutation has led to premature termination of translation. The same mutation was not detected among the 100 healthy controls.</p><p><b>CONCLUSION</b>The c.2891T>G (L964X) of the APC gene probably underlies the familial adenomatous polyposis in this pedigree. The combined DNA sequencing and PCR-RFLP method is efficient and accurate for the diagnosis.</p>