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Journal : Indonesian Journal of Biotechnology

A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease Hutajulu, Pinda; Dasuki, Djaswadi; Sadewa, Ahmad Hamim; Utoro, Totok
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (186.502 KB)

Abstract

Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene whichis expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects thedevelopment of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study isto examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis.Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphismwas detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p<0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1.Key words: HOXA10 gene, endometriosis, Ser19Cys polymophism
Genetic Variation of Apolipoprotein E (ApoE) in Surabaya, Palu and Alor Populations of Indonesia Hastuti, Pramudji; Sofro, Abdul Salam Mudzakir; Asdie, Ahmad Husain; Sadewa, Ahmad Hamim
Indonesian Journal of Biotechnology Vol 16, No 2 (2011)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (43.035 KB)

Abstract

AbstractApolipoprotein E (ApoE) has been considered to play an important role in cardiovascular disorders.Several studies reported that genetic variation in ApoE locus influence plasma lipoprotein level. The objectivesof this study was to compare the frequency of ApoE genotypes and alleles in some populations of Indonesia.One hundred and ninety five voluntarily unrelated apparently healthy individuals were recruited fromSurabaya, Palu and Alor representing the western, middle and eastern populations of Indonesia, respectively.Blood samples were collected from each subject for DNA extraction. The common allelic variants of ApoE werescreened using polymerase chain reaction (PCR) and restriction fragment length polymorphism. Three allelesi.e. ε2, ε3 and ε4 were identified and five genotypes i.e. ApoE ε2/ε2, ApoE ε2/ε3, ApoE ε3/ε3, ApoE ε2/ε4, ApoE ε3/ε4 were found in three populations studied, while ApoE ε4/ε4 was absent in Surabaya, representing the westernpopulations of Indonesia. The frequency of ε2, ε3 and ε4 alleles in the western population were 0.208, 0.701and 0.092 respectively; in the middle population were 0.242, 0.618 and 0.140 respectively and in the easternpopulation of Indonesia were 0.267, 0.466 and 0.267 respectively. The highest frequency of ε2 and ε4 allelewas found in the eastern population of Indonesia. The distribution of ε2 allele were not significantly differentamong all Indonesian populations, but significantly different were found in ε3 and ε4 allele in the easternpopulation compared to those in the western and middle populations of Indonesian. It can be concluded thatthe frequency of three ApoE alleles in the western and middle populations of Indonesia was not significantlydifferent however, significantly different was observed in the frequency of ApoE ε3 and ε4 alleles from theeastern compared to those in the western and middle populations of Indonesia.Keywords : Apolipoprotein E; genotypes; allele frequency; populations of Indonesia
Apolipoprotein E as Risk Factor for Coronary Heart Disease Hastuti, Pramudji; M Sofro, Abdul Salam; Asdie, Ahmad Husain; Sadewa, Ahmad Hamim
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (228.571 KB)

Abstract

Allelic variation of apolipoprotein E (apo E) has been shown to infl uence the concentrations of total cholesterol and low density lipoprotein cholesterol (LDL-C) and considered to play a role as one of risk factors for coronary heart disease (CHD). The aim of this study was to examine the relationship between Apo E polymorphism and the risk of CHD. Blood samples were collected from 33 CHD patients in Dr. Sardjito Hospital Yogyakarta, and 38 apparently healthy control individuals in a cross sectional study. The common allelic variants of ApoE were screened employing polymerase chain reaction and restriction fragment length polymorphism. The results obtained were analyzed by t-test and signifi cantly different if p <0.05 and risk factor was calculated by odd ratio. Frequency of ApoE ε2, ε2 and ε4 alleles in CHD patients were 12.1%, 69.7% and 18.2% while in controls were 18.4%, 72.4% and 9.2% respectively. Dyslipidemia condition was a strongrisk factor for CHD. By controlling lipid profi le and applying multifactorial statistic analysis, it was shown that ε4 gene carrier was the risk factor for CHD, but not in triglyceride level, whereas ε2 carrier gene was not the risk factor for CHD. Dislipidemia was the risk factor for CHD and ApoE ε4 gene carrier was the risk factor for CHD.Key words: apolipoprotein E, ApoE ε4 gene carrier, coronary heart disease, dyslipidemia.
A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease Pinda Hutajulu; Djaswadi Dasuki; Ahmad Hamim Sadewa; Totok Utoro
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (186.502 KB) | DOI: 10.22146/ijbiotech.7864

Abstract

Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene whichis expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects thedevelopment of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study isto examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis.Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphismwas detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p<0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1. Key words: HOXA10 gene, endometriosis, Ser19Cys polymophism
Apolipoprotein E as Risk Factor for Coronary Heart Disease Pramudji Hastuti; Abdul Salam M. Sofro; Ahmad Husain Asdie; Ahmad Hamim Sadewa
Indonesian Journal of Biotechnology Vol 18, No 1 (2013)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (228.571 KB) | DOI: 10.22146/ijbiotech.7867

Abstract

Allelic variation of apolipoprotein E (apo E) has been shown to infl uence the concentrations of total cholesterol and low density lipoprotein cholesterol (LDL-C) and considered to play a role as one of risk factors for coronary heart disease (CHD). The aim of this study was to examine the relationship between Apo E polymorphism and the risk of CHD. Blood samples were collected from 33 CHD patients in Dr. Sardjito Hospital Yogyakarta, and 38 apparently healthy control individuals in a cross sectional study. The common allelic variants of ApoE were screened employing polymerase chain reaction and restriction fragment length polymorphism. The results obtained were analyzed by t-test and signifi cantly different if p <0.05 and risk factor was calculated by odd ratio. Frequency of ApoE ε2, ε2 and ε4 alleles in CHD patients were 12.1%, 69.7% and 18.2% while in controls were 18.4%, 72.4% and 9.2% respectively. Dyslipidemia condition was a strongrisk factor for CHD. By controlling lipid profi le and applying multifactorial statistic analysis, it was shown that ε4 gene carrier was the risk factor for CHD, but not in triglyceride level, whereas ε2 carrier gene was not the risk factor for CHD. Dislipidemia was the risk factor for CHD and ApoE ε4 gene carrier was the risk factor for CHD. Key words: apolipoprotein E, ApoE ε4 gene carrier, coronary heart disease, dyslipidemia.
Polymorphism of Transcription Factor 7-Like 2 Gene and HOMA-β Level of Individuals With and Without Type 2 Diabetes Mellitus Family History Waode Astria Sahrani; Indwiani Astuti; Ahmad Hamim Sadewa
Indonesian Journal of Biotechnology Vol 19, No 2 (2014)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (197.526 KB) | DOI: 10.22146/ijbiotech.9312

Abstract

Family history has considered as a risk factor of type 2 diabetes. Transcription factor-7 like 2 (TCF7L2) hasrole to regulates insulin secretion and blood glucose homeostasis. The aim of current study was to determine thers7903146 polymorphism of TCF7L2 gene and homeostatic model assessment-β (HOMA-β) level on individual withand without type 2 Diabetes Mellitus (DM) family history. This work is a case-control study. Thirty six subjectswith type 2 DM family history and 36 subjects without type 2 DM family history were recruited. HOMA-βmeasure to analyze the insulin secretion. Polymorphisms of TCF7L2 gene was analyzed by using PCR-RFLPmethod. Statistical analysis was performed by using T-test, Mann-Whitney and Chi-square with signifi cancelevel 0.05. The frequency of the T allele of the cases were 4.2% and the controls were 2.8% (p=0.500). The oddratio was 0.649 (CI;95%:0.106-4.055). The HOMA-β levels of the cases were signifi cant low (132.56±62.48)compared with the controls (266.09±1.68) with p=0.000. The subjects with type 2 DM family history have asimilar frequency of having T alleles and CT/TT genotypes. The subjects with type 2 DM family history hassignifi cantly lower HOMA-β levels than subject without DM family history.
Genetic Variation of Apolipoprotein E (ApoE) in Surabaya, Palu and Alor Populations of Indonesia Pramudji Hastuti; Abdul Salam Mudzakir Sofro; Ahmad Husain Asdie; Ahmad Hamim Sadewa
Indonesian Journal of Biotechnology Vol 16, No 2 (2011)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (184.415 KB) | DOI: 10.22146/ijbiotech.16371

Abstract

Apolipoprotein E (ApoE) has been considered to play an important role in cardiovascular disorders.Several studies reported that genetic variation in ApoE locus influence plasma lipoprotein level. The objectivesof this study was to compare the frequency of ApoE genotypes and alleles in some populations of Indonesia.One hundred and ninety five voluntarily unrelated apparently healthy individuals were recruited fromSurabaya, Palu and Alor representing the western, middle and eastern populations of Indonesia, respectively.Blood samples were collected from each subject for DNA extraction. The common allelic variants of ApoE werescreened using polymerase chain reaction (PCR) and restriction fragment length polymorphism. Three allelesi.e. ε2, ε3 and ε4 were identified and five genotypes i.e. ApoE ε2/ε2, ApoE ε2/ε3, ApoE ε3/ε3, ApoE ε2/ε4, ApoE ε3/ε4 were found in three populations studied, while ApoE ε4/ε4 was absent in Surabaya, representing the westernpopulations of Indonesia. The frequency of ε2, ε3 and ε4 alleles in the western population were 0.208, 0.701and 0.092 respectively; in the middle population were 0.242, 0.618 and 0.140 respectively and in the easternpopulation of Indonesia were 0.267, 0.466 and 0.267 respectively. The highest frequency of ε2 and ε4 allelewas found in the eastern population of Indonesia. The distribution of ε2 allele were not significantly differentamong all Indonesian populations, but significantly different were found in ε3 and ε4 allele in the easternpopulation compared to those in the western and middle populations of Indonesian. It can be concluded thatthe frequency of three ApoE alleles in the western and middle populations of Indonesia was not significantlydifferent however, significantly different was observed in the frequency of ApoE ε3 and ε4 alleles from theeastern compared to those in the western and middle populations of Indonesia.
The first evaluation of glucose-6-phospate dehydrogenase defciency (G6PD) gene mutation in malaria endemic region at South Central Timor (SCT) district, Eastern Indonesia 2014–2015 Jontari Hutagalung; Hari Kusnanto; S. Supargiyono; P. Purwono; Sadewa Ahmad Hamim; Darojatun Ida; Satyagraha Ari Winasti; Novijanti Rintis; Triwibowo A. Garjito; Mega Tyas Prihatin; Bai Apris; Bansai Immanuel; Kik Hao Samuel; Hananta Linawati
Indonesian Journal of Biotechnology Vol 20, No 2 (2015)
Publisher : Universitas Gadjah Mada

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (1115.764 KB) | DOI: 10.22146/ijbiotech.24194

Abstract

Primaquine (PQ) is a key drug in the malaria pre-elimination stage. However, PQ can trigger acutehemolysis for people with G6PD defciency (G6PDd). In 2013, 15–25 million Indonesian people were infected with malaria, with 30,000–38,000 deaths each year mostly in eastern Indonesia with API= 15.6 %. Recently, the Ministry of Health of the Republic of Indonesia announced a plan to reach the pre-elimination stage based on WHO guidelines. This study assesses whether eastern Indonesia should proceed with the activities of malaria pre-elimination. A total 555 healthy people in fve subdistricts in eastern Indonesia were selected by systematic random samping. All data were collected using a standard questionnaire, physical examination, and laboratory tests. PCR and DNA sequencing protocols followed respective manufacture’s instructions. Statistical analysis by bivariate with α= 0.05 and 95% CI were performed using the SPSS software package. Based on the nested PCR, the result showed a malaria prevalence of 32.6% with being the dominant species (52.5%). Malaria cases were found in all study sites and not using a bed net was the moost signifcant risk factors with Exp B= 1.54 with 95% CI= 0.99–2.38. G6PDd prevalence was 16.6%, the highest G6PDd ever found in Indonesia with variant molecular dominant 10.883 T>C and one sample with a heterozygous female. Malaria pre-elimination in eastern Indonesia should be delayed. High risk patients should be tested for enzyme G6PD activities before antimalarial administration.
Co-Authors . Harapan . HERNAYANTI . Syahrul Abdul Salam M Sofro, Abdul Salam Abdul Salam M. Sofro Abdul Salam Mudzakir Sofro Abdul Salam Mudzakir Sofro, Abdul Salam Mudzakir Abdurahman Laqif Abdurahman Laqif Abdus Samik Wahab Abrory Agus Cahya Pramana Ahmad Husain Asdie Ahmad Husain Asdie Ahmad Husain Asdie Ajeng Viska Icanervilia Akhmad Kharis Nugroho Alfasunu, Serafim Anggelia Puspasari Anggoro Budi Hartopo Ani Kristiyani Arif Faisal Arif Faisal Arta Farmawati Arta Farmawati Atmaja, Sarah Awal Prasetyo Bai Apris Bambang Hariono Bambang Hariono Bambang Hariono Bansai Immanuel Bernadia Branitamahisi Bernadia Branitamahisi Budi Yuli Setianto Cahyono Hadi Cahyono Hadi Christine Patramurti Citra Maharani Danarsih, Dwi Eni Darojatun Ida Demas Bayu Handika Dessy Rakhmawati Emril Dewajani Purnomosari Dian Caturini Sulistyonigrum Dian Lestari, Nova Dianandha Septiana Rubi Dibyo Pramono Didik Setyo Heriyanto Djaswadi Dasuki Djaswadi Dasuki Djaswadi Dasuki Dono Indarto DONO INDARTO Dono Indarto Dwi Aris Agung Nugrahaningsih Dyah Wulan Anggrahini Ellsya Angeline Rawar Emilia Vivi Arsita Emy Huriyati Endang Mutiawati Rahayuningsih* Faisal Rahman Fransisca Shinta Maharini Hanafi, Arif Riswahyudi Hari Kusnanto Hasan Sjahrir Hemi Sinorita Hendi Wicaksono Hernayanti , Hernayanti Hernayanti Hernayanti HERNAYANTI HERNAYANTI Hexa Apriliana Hidayah I Gusti Ayu Nyoman Danuyanti I NYOMAN MANTIK ASTAWA Ida Ayu Preharsini Ida Ayu Preharsini Kusuma Ika Rahayu Ika Setyawati Ikhsan, M. Robikhul Imelda, Priscillia Indwiani Astuti Indwiani Astuti Indwiani Astuti Inna Narayani Iskandar Zakaria Jayusman, Achmad Mulawarman Jenny Hidayat Jontari Hutagalung Kik Hao Samuel Kris Herawan Timotius Kusumadewi Eka Damayanti Kusumadewi Eka Damayanti Kusumadewi Eka Damayanti Lina Choridah Linawati Hananta, Linawati Lucia Krisdinarti Lukman Hakim M. Robikhul Ikhsan Maliyah Madiyan Maria Dara Novi Handayani, Maria Dara Novi Marsetyawan HNE Soesatyo Mega Tyas Prihatin Mohammad Robikhul Ikhsan Mus, Rosdiana Mustofa Mustofa Mustofa Mustofa Ngadikun - Ngadikun Ngadikun Nor Istiqomah Nor Istiqomah Nor Istiqomah Nor Sri Inayati Nor Sri Inayati Novijanti Rintis Nurtjahjo Dwi Sasongko P. Purwono Pinda Hutajulu Pinda Hutajulu, Pinda Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti Pramudji Hastuti, Pramudji Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti Prasetyastuti, . Rasmaya Niruri Ratih Feraritra Danu Atmaja Rina Pratiwi Pudja I. A Rina Susilowati RIZKI FAJAR UTAMI Rochadi Rochadi Rochadi Rochadi, Rochadi S. Supargiyono Sabirin, Rahmaningsih Mara Sarah Safira Umarghanies Saryono Saryono Satyagraha Ari Winasti Seto Priyambodo Setyo Purwono Siti Boedina Kresno Siti Wahyuningsih Sofia Mubarika Haryana Sri Sutarni Sri Wahyuni Subagus Wahyuono Subagus Wahyuono Sukarti Moeljopawiro Sukarti Moeljopawiro Sukarti Moeljopawiro Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti Sunarti, Sunarti Sunarto Ang Tasmini - Tasmini Tasmini Teguh Aryandono Titiek Suhardi Haripurnomo Kushadiwijaya Hidayati Totok Utoro Totok Utoro Triwibowo A. Garjito Umarghanies, Sarah Safira Viren Ramadhan Vitarani Dwi Ananda Ningrum Vitria Sari Dewi Vitria Sari Dewi Waode Astria Sahrani Wasilah Rochmah wayan T Artama wayan T Artama Wayan Tunas Artama Widhiastuti, Stefani Santi Wiryatun Lestariana Wiryatun Lestariana, Wiryatun Wiwik Handayani Yuliana Heri Soesilo Yuliana Heri Soesilo Yuliana Heri Soesilo Yuliani, Fara Silvia Yunilistiaingsih Yunilistiaingsih Yunilistiaingsih, Yunilistiaingsih Yuningtyaswari Yuningtyaswari Zainal Arifin Nang Agus Zullies Ikawati