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1. 遺伝学：用語集genetics glossary of terms [show details]
…allele frequency" typically refers to the less common variant at a biallelic locus and is usually used to refer to the frequency of a single nucleotide polymorphism (SNP). This population frequency is distinguished… Nonsense variants are coding variants that result in the introduction of a stop codon A frameshift mutation results from an insertion or…
2. 遺伝性疾患の基本原則basic principles of genetic disease [show details]
… depending on the frequency of the disorder and the availability of an appropriate intervention.… whereby specific groups of three nucleotides (codons) correspond to one of 20 amino acids.…
3. 変異型クロイツフェルト・ヤコブ病variant creutzfeldt jakob disease [show details]
…spread based upon a species barrier; Low incidence of host genetic factors such as the frequency of homozygosity at codon 129; Renewed concern about vCJD was sparked with the finding in May 2003 of a cow …
4. 消化管間質腫瘍（GIST）の疫学、分類、臨床症状、予後の特徴、診断方法epidemiology classification clinical presentation prognostic features and diagnostic work up of gastrointestinal stromal tumors gist [show details]
… that autopsy data suggest that the frequency of incidentally detected subcentimeter gastric GIST lesions… including those affecting exon 9 and deletions involving codons 557 to 558 on KIT exon 11 .…
5. 遺伝的疾患における褐色細胞腫pheochromocytoma in genetic disorders [show details]
… encoded in RET exons 10 (codons 609, 611, 618, and 620) or 11 (codons 630 or 634). Eighty-five percent of individuals with MEN2A have a mutation in codon 634,… The approximate frequency of pheochromocytoma in these disorders is 10 to 20 percent in VHL syndrome,…

English Journal

Proteae: a reservoir of class 2 integrons?

Mendes Moreira A, Couvé-Deacon E, Bousquet P, Chainier D, Jové T, Ploy MC, Barraud O.
The Journal of antimicrobial chemotherapy. 2019 Jun;74(6)1560-1562.
Our aim was to confirm with a large panel of clinical isolates that class 2 integrons are highly prevalent in Proteae and to analyse their genetic characteristics. Proteae (Proteus spp., Morganella spp. and Providencia spp.) isolates were collected from clinical samples during 2013 at Limoges Univer
PMID 30805633

A missense mutation of STERILE APETALA leads to female sterility in Chinese cabbage (Brassica campestris ssp. pekinensis).

Liu W, Huang S, Liu Z, Lou T, Tan C, Wang Y, Feng H.
Plant reproduction. 2019 Jun;32(2)217-228.
Flower development is essential for the sexual reproduction and crop yield of plants. Thus, a better understanding of plant sterility from the perspective of morphological and molecular genetics is imperative. In our previous study, a recessive female-sterile Chinese cabbage mutant fsm was obtained
PMID 30806770

TP53 Gene 72 Arg/Pro (rs1042522) Single Nucleotide Polymorphism Contribute to Increase the Risk of B-Chronic Lymphocytic Leukemia in the Sudanese Population

Mohammed Basabaeen AA, Abdelgader EA, Babekir EA, Abdelrahim SO, Eltayeb NH, Altayeb OA, Fadul EA, Sabo A, Ibrahim IK.
Asian Pacific journal of cancer prevention : APJCP. 2019 May;20(5)1579-1585.
Objective: This study aimed at exploring the association of TP53 72Arg/Pro polymorphism and Risk of Chronic

Lymphocytic Leukemia and to assess the correlation between TP53 72Arg/Pro polymorphism and clinical parameter, hematological profile and some biological prognostic markers among Sudanese patie

PMID 31128065

Japanese Journal

Coexistence of IL-6 -572C/G and ICAM-1 K469E Polymorphisms among Patients with Sudden Sensorineural Hearing Loss

Tian Guangyong,Zhang Shanshan,Yang Jingya
The Tohoku Journal of Experimental Medicine 245(1), 7-12, 2018
… Importantly, the IL-6 gene promoter contains a single nucleotide polymorphism (SNP), -572C/G, and ICAM-1 gene contains a SNP (A/G) in the protein-coding region, Lys (AAG)/Glu (GAG) at codon 469, known as K469E polymorphism. … The frequency of the G allele at IL-6 -572C/G polymorphism was significantly higher among SSNHL patients than that among healthy individuals. …
NAID 130006725763

Quinolone Resistance Determinants of Clinical Salmonella Enteritidis in Thailand

Utrarachkij Fuangfa,Nakajima Chie,Changkwanyeun Ruchirada,Siripanichgon Kanokrat,Kongsoi Siriporn,Pornruangwong Srirat,Changkaew Kanjana,Tsunoda Risa,Tamura Yutaka,Suthienkul Orasa,Suzuki Yasuhiko
Microbial drug resistance 23(7), 885-894, 2017-10-01
… Enteritidis has been observed with high frequency in Thailand, information on the mechanism of resistance acquisition is limited. … The most commonly affected codon in mutant gyrA was 87, followed by 83. … Double codon mutation in gyrA was found in an isolate with high-level resistance to NAL, NOR, and CIP. … A new mutation causing serine to isoleucine substitution at codon 83 was identified in eight isolates. …
NAID 120006523732

膵管癌のEUS-FNA生検におけるp53免疫染色の有用性と臨床病理学的意義

鈴木怜佳,大池信之,長濵正亞,瀧本雅文
昭和学士会雑誌 77(3), 302-308, 2017
… 的有意差はみられなかったが，p53陰性群では膵体尾部の発生が多く，低分化型が多く，腫瘍マーカーが低値である傾向が認められた．なお，p53陰性群のうちの7例に対してKRAS遺伝子検査を行ったところ全例でcodon12変異が認められた．EUS-FNA検体でもp53陽性所見が高頻度に同定され，悪性診断に極めて有用であると考えられた．また，p53陰性例ではKRAS解析が補完的な役割を担い得るものと考えられた．p53発現の多寡と相 …
NAID 130006252982