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Fakultas Kedokteran Universitas Brawijaya Gedung Graha Medika Lt. 1, Ruang 104
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Kota malang,
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INDONESIA
Jurnal Kedokteran Brawijaya
Published by Universitas Brawijaya
ISSN : 02169347     EISSN : 23380772     DOI : http://dx.doi.org/10.21776/ub.jkb
Core Subject : Health,
Medicine & Pharmacology
JKB contains articles from research that focus on basic medicine, clinical medicine, epidemiology, and preventive medicine (social medicine).
Arjuna Subject : Kedokteran - Kedokteran (Lain-Lain)
Articles 782 Documents
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Nonsense Mutation (c.1425G>A-p.Trp475Ter) Associated with Oculocutaneous Albinism Type 1A (OCA1A) in Yogyakarta Karmilah, Karmilah; Dian Pratiwi, Arini; Nur Handayani, Niken Satuti
Jurnal Kedokteran Brawijaya Vol. 33 No. 4 (2025)
Publisher : Fakultas Kedokteran Universitas Brawijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.jkb.2025.033.04.8

Abstract

Oculocutaneous Albinism (OCA) is a disorder characterized by impaired melanin synthesis that leads to hypopigmentation of the skin, hair, and eyes, accompanied by distinct ocular abnormalities. The global prevalence of all forms of albinism is approximately 1 in 17,000 individuals, and OCA1 is the most common type. OCA1 results from mutations in the TYR gene and specifically involves a complete loss of tyrosinase enzyme function, resulting in a total absence of pigment in the skin, eyes, and hair. This case report describes two male patients with congenital symptoms of extremely light or depigmented skin and hair. Both presented with white eyelashes and eyebrows, grayish irises, and ocular abnormalities, including nystagmus, photophobia, and strabismus. The analysis showed a genetic variant in the exon of the TYR gene with the mutation variant c.1425G>A/p.Trp475Ter and was found to be a nonsense mutation.
Identification of ACE2 and TMPRSS2 Gene Polymorphisms in Covid-19 Survivors with Hypertension and Diabetes Mellitus using the rhAmp PCR Method Setijowati, Eva Diah; Suprapti, Herni; Waskito, Budi Arief; Wulandari, Retno Dwi
Jurnal Kedokteran Brawijaya Vol. 33 No. 4 (2025)
Publisher : Fakultas Kedokteran Universitas Brawijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.21776/ub.jkb.2025.033.04.1

Abstract

The Covid-19 pandemic has caused significant global mortality and morbidity. Covid -19 infection is caused by the SARS-CoV-2 virus, which requires a receptor on the host cell to enter, primarily Angiotensin-Converting Enzyme 2, encoded by the ACE2 gene, and Transmembrane Serine Protease 2, encoded by the TMPRSS2 gene. Several factors can influence Covid-19 mortality and morbidity, including gender, comorbidities such as diabetes mellitus (DM), obesity, cardiovascular diseases, and genetic factors. ACE2 and TMPRSS2 polymorphisms are believed to worsen the condition of Covid-19 patients. This study aimed to identify polymorphisms in the ACE2 (rs2285666 G>C) and TMPRSS2 (rs2070788 A>G) in  Covid-19 survivors with hypertension and diabetes mellitus. The total sample was 30 hypertension and diabetes mellitus   patients treated at Islamic Hospital Surabaya. A total of 3 ml of blood was drawn from the median cubital vein and placed into an EDTA vacutainer. DNA extraction was performed using the High Pure PCR Template Preparation Kit (Roche). Identification of ACE2 and TMPRSS2 polymorphisms was performed using the rhAmp SNP genotyping method with the LightCycler® system (Roche 480II). Genotyping results for ACE2 showed that 55.2% of patients had the GG (wild-type) with a G allele frequency of 68.9%. Genotyping for the TMPRSS2 showed that 60% of patients had the GG (mutant-type) with a G allele frequency of 78.3%. During Covid-19 infection, neither GG genotype (ACE2) and the GG genotype (TMPRSS2) exhibited severe symptoms.

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