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All Journal International Journal of Public Health Science (IJPHS) SAINS MEDIKA : JURNAL KEDOKTERAN DAN KESEHATAN Jurnal Kedokteran Diponegoro Journal of Nutrition College Journal of the Medical Sciences (Berkala Ilmu Kedokteran) Journal of Biomedicine and Translational Research Mutiara Medika: Jurnal Kedokteran dan Kesehatan The Indonesian Biomedical Journal Paediatrica Indonesiana Jurnal Gizi dan Dietetik Indonesia (Indonesian Journal of Nutrition and Dietetics) Medica Hospitalia Bioscientia Medicina : Journal of Biomedicine and Translational Research Life Science
Nani Maharani
Department Of Pharmacology And Therapy, Faculty Of Medicine, Diponegoro University
Agriculture, Biological Sciences & Forestry Biochemistry, Genetics & Molecular Biology Dentistry Environmental Science Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Nursing Public Health Other

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Rapid PCR-RFLP Screening of CYP21A2 Variants: Bridging Molecular Diagnostics in a Low-Resource Setting Larasati, Irene Astrid; Maharani, Nani; Utari, Agustini; Winarni, Tri Indah
Journal of Biomedicine and Translational Research Vol 12, No 1 (2026): April 2026
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v12i1.30107

Abstract

Background: The 21-hydroxylase deficiency (21OHD) accounted for the majority of autosomal recessive inherited congenital adrenal hyperplasia (CAH) cases. A genetic test could offer a more thorough diagnostic approach because of the wide range of disease’s severity, but it was challenging in a resource-limited setting.Objective: To apply a simple and cost-effective rapid molecular screening for detecting the most common CYP21A2 variants causing salt-wasting (SW) CAH.Methods: DNA extraction was conducted using a salting out method from a venous blood sample taken from 49 CAH patients without prior genetic testing. A PCR-RFLP approach was utilized using primer sets specifically designed to anneal to the CYP21A2. Specific restriction enzymes were selected to cleave the DNA sequence, differentiating the wild and mutant type, i.e, the p.Arg357Trp, p.Gln318Ter, IVS2-13A/C>G, and exon 6 cluster. Samples positive for those mutation types detected from DNA sequencing, used as positive controls.Results: The most common variant was IVS2-13A/C>G, detected in 26 out of 27 patients. Only 6.1% of 49 patients were found to have the p.Gln318Ter variant. Both the p.Arg357Trp and exon 6 cluster carried inconclusive results. All patients detected with the IVS2-13A/C>G and p.Gln318Ter had a phenotype of SW CAH.Conclusion: The PCR-RFLP was an advantageous method for identifying CYP21A2 variants in a low-resource setting. Nevertheless, the use of multiplex ligation-probe dependent amplification (MLPA) and Sanger sequencing offered a comprehensive analysis to discover novel variants that could help with patients' diagnosis and treatment.
Ramadan Fasting and Anthropometric Parameters: The Role of MC4R rs17782313 Genotype in Adults Semarang, Indonesia Kurniawan, Kezia Yunandra; Yocku, Monica Hermina Sharon Otline; Savitri, Rachmania Anggita; Haq, Arynal; Maharani, Nani; Fulyani, Faizah; Noer, Etika Ratna; Pramono, Adriyan
Journal of Biomedicine and Translational Research Vol 12, No 1 (2026): April 2026
Publisher : Faculty of Medicine, Universitas Diponegoro

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.14710/jbtr.v12i1.29501

Abstract

Background: The melanocortin-4 receptor (MC4R) gene regulates energy balance and food intake. The rs17782313 variant has been linked to altered homeostasis and eating behavior, and may also affect anthropometric and body composition responses during Ramadan fasting.Objective: To examine the effects of Ramadan fasting on anthropometric parameters, body composition, and macronutrient intake across different MC4R genotypes in adults.Methods: Thirty-five subjects were genotyped and grouped into recessive (TT, n=15) and dominant (TC+CC, n=20) allele carriers. Anthropometric and body composition measurements, dietary intake (SQ-FFQ), and physical activity (IPAQ-SF) were assessed before, during, and after Ramadan. Genetic data for rs17782313 were obtained from a prior investigation. Repeated Measures ANCOVA, adjusted for energy intake and physical activity, evaluated genotype and time effects.Results: The recessive group (TT) showed higher values than the dominant group (TC+CC), with significant differences in body weight, BMI, hip circumference, and visceral fat across all time points (p<0.05). Waist circumference differed significantly during and after Ramadan, while BMR differed only before fasting (p<0.05). Macronutrient intake and physical activity did not differ significantly, although protein and fat intake changes post-Ramadan were notable (p<0.05). A significant time–activity interaction was found for body weight (p=0.041). TT carriers experienced greater anthropometric benefits from Ramadan fasting compared to TC+CC carriers.Conclusion: Ramadan fasting significantly influences anthropometric parameters, body composition, and macronutrient intake across MC4R genotypes. Greater responses were observed in recessive carriers (TT), although fasting outcomes were also shaped by nutrition and physical activity. These findings highlight the interplay of genetic and environmental factors in energy regulation during Ramadan.
Co-Authors Abraham Talent Bawadi Sibarani Adriyan Pramono Agustini Utari Aisy, Rihadatul Al-Baari, Ahmad Ni’matullah Amin Husni Anjani, Gemala Ardyarini, Hikmatunnisa Tri Asri, Hairul Astika Widy Utomo, Astika Widy Awal Prasetyo Bahrudin Besari Adi Pramono Budiono, Bernardus Parish Cecilia Noviyanti Salim Dzaki Edmonda Setyawan Edarni Zebua Edi Dharmana Endang Mahati Endang Mahati Etika Ratna Noer Farmaditya EP Mundhofir Ferdy Kurniawan Cayami Ferry Sandra Fulyani, Faizah Gatot Irawan Sarosa, Gatot Irawan Haq, Arynal Hery Djagat Purnomo Hesti Triwahyu Hutami Hisatome, Ichiro Ika Pawitra Miranti Indriyati, Rita Intan Rahmania Eka Dini Jaeri, Santoso Julian Dewantiningrum Kurniawan, Kezia Yunandra Kuwabara, Masanari Larasati, Irene Astrid Li, Peili M Ali Sobirin Manda Petrina Martin Adhitya Subagio Meita Hendrianingtyas Muhammad Thifan Satyagraha Muniroh, Muflihatul Neni Susilaningsih Ninik Rustanti Ninomiya, Haruaki Nugraha, Eka Djatnika Pratama, Reza Dian Qolby, Qonita Nur Qorina Putri Srisantoso Rahajeng, Herera Rayvita AN Meagratia Rebriarina Hapsari Retnaningsih Retnaningsih Reza Dian Pratama Rizky Aditya Fardhani Ryco Giftyan Ardika Savitri, Rachmania Anggita Selamat Budijitno Sihombing, Nydia Rena Benita Sultana MH Faradz Surya Utoyo, Frederick Taufiq, Fikri Tri Indah Winarni Udadi Sadhana, Udadi Udin Bahrudin Udin Bahrudin, Udin Wibowo, Erwin Widiastiti, Nyoman Suci Widyastuti, Esti Wiwik Lestari Yan Wisnu Prajoko Yocku, Monica Hermina Sharon Otline Yora Nindita Yuriz Bakhtiar