• Title/Summary/Keyword: Ala62Pro

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Germline Variations of Apurinic/Apyrimidinic Endonuclease 1 (APEX1) Detected in Female Breast Cancer Patients

  • Ali, Kashif;Mahjabeen, Ishrat;Sabir, Maimoona;Baig, Ruqia Mehmood;Zafeer, Maryam;Faheem, Muhammad;Kayani, Mahmood Akhtar
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7589-7595
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    • 2014
  • Apurinic/apyrimidinic endonuclease 1 (APEX1) is a multifunctional protein which plays a central role in the BER pathway. APEX1 gene being highly polymorphic in cancer patients and has been indicated to have a contributive role in Apurinic/apyrimidinic (AP) site accumulation in DNA and consequently an increased risk of cancer development. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 530 breast cancer patients and 395 matched healthy controls and then analyzed by single-stranded conformational polymorphism followed by sequencing. Sequence analysis revealed fourteen heterozygous mutations, seven 5'UTR, one 3'UTR, two intronic and four missense. Among identified mutations one 5'UTR (rs41561214), one 3'UTR (rs17112002) and one missense mutation (Ser129Arg, Mahjabeen et al., 2013) had already been reported while the remaining eleven mutations. Six novel mutations (g.20923366T>G, g.20923435G>A, g.20923462G>A, g.20923516G>A, 20923539G>A, g.20923529C>T) were observed in 5'UTR region, two (g.20923585T>G, g.20923589T>G) in intron1 and three missense (Glu101Lys, Ala121Pro, Ser123Trp) in exon 4. Frequencues of 5'UTR mutations; g.20923366T>G, g.20923435G>A and 3'UTR (rs17112002) were calculated as 0.13, 0.1 and 0.1 respectively. Whereas, the frequency of missense mutations Glu101Lys, Ser123Trp and Ser129Arg was calculated as 0.05. A significant association was observed between APEX1 mutations and increased breast cancer by ~9 fold (OR=8.68, 95%CI=2.64 to 28.5) with g.20923435G>A (5'UTR), ~13 fold (OR= 12.6, 95%CI=3.01 to 53.0) with g.20923539G>A (5'UTR) and~5 fold increase with three missense mutations [Glu101Lys (OR=4.82, 95%CI=1.97 to 11.80), Ser123Trp (OR=4.62, 95%CI=1.7 to 12.19), Ser129Arg (OR=4.86, 95%CI=1.43 to 16.53)]. The incidence of observed mutations was found higher in patients with family history and with early menopause. In conclusion, our study demonstrates a significant association between germ line APEX1 mutations and breast cancer patients in the Pakistani population.

Development of animal protein(feed for fry) utilizing the rumen ciliates (제1위 섬모충(rumen ciliates)을 이용한 동물성 단백질(치어용 사료) 개발)

  • Jee, Cha-ho;Hyun, Gong-yool
    • Korean Journal of Veterinary Research
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    • v.35 no.2
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    • pp.327-336
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    • 1995
  • This study was carried out to develop the animal protein(feed for fry) that was isolated, purified and lyophilized the rumen ciliates from the healthy rumen contents which have $10^5-10^6/g$ ciliates and were discarded in abattoirs. The rumen ciliates are non-pathogenic, anaerobic and the weight of this protozoa is 2% of rumen content. The rumen protozoan and bacterial proteins both have a biological value for rats of 80-81, which is higher than the 72 of brewer's yeasts. Furthermore, the true digestibility and net protein utility of the protozoan protein are 91 and 73, much higher than those of bacterial(74 and 60) or yeast(84 and 60) proteins. The amino acids of rumen protozoa is nutritionally superior than the others. The size of rumen ciliates is $30-200{\times}20-110{\mu}m$ and so we had isolated and purified the rumen ciliates from the rumen contents by the physical methods. The purified rumen protozoa was lyophilized with freezing dryer. The results of this experiment were as follows : 1. Population dynamics of protozoan ciliates in slaughtered rumens; % of samples which small ciliates were predominated was 82.5%(52/63) and that of large ciliates was 17.5%(11/63). 1) predominant species of small ciliates were Entodinium ovinum and E nanellum. 2) predominant species of large ciliates were Epidinium ecaudatum and Diploplastron affine. 2. The lyophilized rumen ciliates which were isolated and purified from 1 kg of rumen content at the pH 6.2-6.8 was about 7.0 gram. 3. The nutrient analysis of lyophilized rqmen ciliates(LRC) was as follows: 1) Proximate analysis of the LRC and the composition of fry feed; moisture 8.05%(below 10.0), protein 35.37%(45), fat 5.39%(4.5), fiber 1.23%(below 2.5), ash 2.25%(below 15.0), Ca 0.26%(below 2.0), P 0.14%(below 1.1), energy 4,608.11(fish meal 5000 cal/g) 2) Amino acids (% in crude protein) of the LRC and the rotifer(Brachionus plicatilis); Arg 5.19%(4.50), His 2.50%(1.55), Ile 5.29%(3.45), Leu 8.11%(5.85), Lys 10.34%(6.15), Met 2.25% (0.85), Phe 5.66%(3.80), Thr 5.14% (3.45), Val 4.18%(3.90), Ala 4.13%(3.35), Asp 13.26%(8.25), Glu 16.62%(9.20), Gly 4.23%(3.10), Pro 3.25%(5.05), Ser 4.85%(3.85), Tyr 5.04%(3.05) 3) Fatty acids(% in fat) of the LRC and the rotifer(biological feed ; Brachionus plicatilis); myristic acid(C14:0) 3.27%(0.3), myristoleic acid(C14:1) 0.83%(-), palmitic acid(C16:0) 39.11% (23.5), palmitoleic acid(C16:1) 2.81%(2.0), stearic acid(C18:0) 9.36%(5.6), oleic acid(C18:1) 25.54%(3.5), linoleic acid(C18:2) 15.05%(32.9), linolenic acid(C18:3) 1.74%(9.8). Judging from the above investigated results, the analytical data of proximate analysis, amino acids, fatty acids of the purified and lyophilized rumen protozoa are reasonable for the feed of freshwater fishes(fry and fingerling). But it was disappointed of our expectation that the crude protein of lyophilized rumen ciliates contains low percentage, it was thought that because of the small ciliates(starch digester) in beef cattle rumens which were administered the concentrated feed, is much difficult to isolate and purify than the large ciliates(fiber digester).

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