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Journal : tropical genetics

Premarital screening and probabilities of genetic disease in premarital screening and probability of genetic diseases in couples preparing for marriage Cut Muthiadin
Tropical Genetics Vol. 3 No. 1 (2023):
Publisher : Genetikawan Muda Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24036/tg.v3i1.33

Abstract

Genetic diseases are known to be difficult and could not be avoided. The disease is obtained from mutations and changes in genetic traits that are passed on from one or both genes from parent to child. Genes carrying traits or diseases can be dominant and recessive, their location can be on the autosomal chromosome or sex chromosome X or Y. This study was conducted on premarital female respondents with defined inclusion criteria. Data were collected through a google form questionnaire. A total of 110 respondents with several parameters of genetic counseling. The result was obtained that all respondents have known that certain diseases can be inherited. However, from all respondents, it was found that they had low knowledge of genetic counseling and premarital screening. From the respondent's data, it was also found that only 17% of respondents knew the history of the disease of the prospective partner and their family. In this case, it can be said that respondents might be carry the sick gene which means the probability that their child will carry the same gene is 50% normal: 50% sick. By screening, it might be predicted that the couple will be able to find out the potential diseases that will be passed on to their offspring later. Latest 48% decided to cancel and 26% said they did not agree and stated to continue the plan of marriage. Lack of knowledge about risk of genetic disorders need education about premarital screening to increase this information and premarital screening to the public.
First record of characterization C-KIT mutation in buccal swab DNA of piebaldism suspect balo from balo community, Pujananting South Sulawesi Cut Muthiadin; Tuty Arisuryanti; Isna Rasdianah Aziz; Hajrah Hajrah; Khusnul Khatimah; Muhammad Tasri Hidayat
Tropical Genetics Vol. 4 No. 1 (2024): Genetics
Publisher : Genetikawan Muda Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24036/tg.v4i1.67

Abstract

ABSTRACT Piebaldism is a disorder in the area of ​​the body caused by an autosomal genetic predominance of the development of melanocytes.The method used in this study is a qualitative method which aims to determine the variation of the KIT-c gene present in the To Balo mucosa samples.The results of this study indicate thatThe change is caused by a point mutation process where in patients with piabeldism the nucleotide bases of sequence 1391 and 1392 undergo changes, where the normal nucleotide base adenine (A) changes to cytosine (C) and cytosine (C) changes to adenine (A). So it can be concluded that the To Balo community in Bulo-Bulo village, Pujananting District, Barru Regency, South Sulawesi suffers from an autosomal dominant hereditary disease or piebaldism.
Co-Authors Abdul Rauf Muhammad Amin Adin Ayu Andriyani AGUS AGUS Ahyar Ahmad Alir, Rahmat Fajrin Amalia, Andi Dewi Reski Amir, Andi Muhammad Nur Atma Amnah, Alifah Zul Amril Andi Nabila Nurfitrah Annisa Zakiyah Darojat Ar. Syarif Hidayat Asbar Hamzah Ashari Ananda, Iva Asmuddin Nasir Asmuddin Natsir Asriyana Asriyana Aswar Rustam Auriga, Fitriani Ayu Andi Indra, Ayu Baiq Farhatul Wahidah Bakri Zakia, Bakri Basmiati, Basmiati Burhan, Eliazar Dedi Mardianto Dedi Susanto Dewi Ratnasari Dirhamzah, Dirhamzah Erniawati, Erniawati Fachrurrazy, Muhammad Fahira, Nurul Fatmawati Nur Fatmawati, Fatmawati Febriani, Ayu Ferial, Ferial Firdayana Firdayana Firmansyah, Yuman Fuadi, Ni'ma Ainul Gafur, Muslimah Fitrah Abd Gazali, Megawati Hadidarma, Nasyrah Hafsan Hajrah Hajrah Hajrah Hajrah Hajrah Hajrah Hajrah, Hajrah Halik, Abdul Chadjib Hartono Helmy Syamsuri, Helmy Hermawan, Isna Ainun Hidayat, Kusnadi S Hidayati, Ulfa Idris Parakkasi Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Isna Rasdianah Aziz Japar, Rahayu Jusni, Jusni Karmila, Yusri Kartika Kasfina, Ina Kholid Albar Khudaer , Faten Khusnul Khatimah Kumala, Nur Hakiki Dewi Laily Agustina Lasinrang Aditia Lianah Lianah, Lianah M. Yusuf K. Mahfut Marcia Bunga Pabendon Mashuri Masri Masita Masita Masita, Masita Masriany, Masriany Maulana Maulana Maulana Maulana, Maulana Mubasysyyratul Ummah Sapsuha Mudyawati Kamaruddin Muhammad Khalifah Mustami Muhammad Tasri Hidayat Mukhtar Galib Nasrullah Bin Sapa Nur Alfi Hidayati Nur, AbdurRahman Shakhr Nurhaedah ., Nurhaedah Nurhidayat Triananinsi Nurhikmah Nurhikmah Nurisyah, Nurisyah Nurjannah Nurjannah Nurmayanti, Nurmayanti Nurul Muhlisyah Paraikkasi, Idris Permatasari, Artha Rezki Pujarena Putri Idris RACHMAWATI, WULAN Rahadian Pratama Rahmat Fajrin Alir Ramlah Ramlah Ramlah Rasnawati Risdayanti Adi Purba Rosalina, Hamna Rusmadi Rukmana Rusny Rusny Sahin, Andini Sapinah Sembiring, Christine Sitti Saenab, Sitti Sri Wahyuni St. Aisyah Sijid Sudarmi Sudarmi Sukmawaty, Eka Sumarlin, Abdul Suryafly, Fanny Dhea Syam, Agus Syaripuddin Syaripuddin Tri Cahyanto Tridesianti, Siska Tuti Supatminingsih Tuty Arisuryanti Umar, Rahmawati Upreti, Brij Mohan Wahab, Andi Rizki Berliana Zahra Wamaulana, Farlinda Yuniar Harviyanti Zahra, Najmatul Zamzam, Miftahul Khairiyah Zulkarnain Zulkarnain