Background Consanguineous marriages, defined as unions between closely related individuals, are influenced by a complex interplay of cultural, social, economic, religious, and demographic factors. These marriages are prevalent among communities such as Hindus, Muslims, Jews, Buddhists, Christians, and Parsis in Southern and Western Asia, with significant regional variations within India. There is a lack of appropriate decision-making among women in consanguineous unions, particularly those with a low level of educational attainment, which leads to an increase in the prevalence of consanguineous marriages. This needs to be addressed through more studies and educational campaigns. Therefore, the primary objective of this study is to assess knowledge about the consequences of consanguinity and the sociodemographic factors related to consanguinity. Methodology A cross-sectional study was conducted in Unnat Bharat Abhiyan villages (Ukkali, Donur, Yambatnal, Hegadihal, Deginal) enrolled under Shri B. M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, India, which was selected using a lottery method. The houses were selected randomly, focusing on ever-married females aged 15-49 within the reproductive age group. Data on sociodemographic profile, marital status, and awareness status of the participants were collected from March 2023 to April 2024 using an interview technique with a pretested, semi-structured questionnaire. Results The study involved the enrollment of a total of 108 participants (Donur - 24, Yembatnal - 32, Ukkali - 27, Deginal - 10, Hegadihal - 15). Among the respondents, only 37 participants (34%) know the specific health and genetic consequences of consanguinity, such as increased risk of genetic disorders (stillbirth, milestone delay, cerebral palsy). The study highlights a significant association between respondents' knowledge of the consequences of consanguineous marriage, their literacy level, and socioeconomic status. Conclusion The study concludes that literacy levels are inversely related to the prevalence of consanguineous marriages, suggesting that education holds the key to reducing this practice. The results of this study highlight the necessity of tackling this problem through a multifaceted strategy. This strategy should include culturally sensitive educational programs, economic empowerment initiatives for women, and religious discourse that promotes genetic diversity, offering the potential for change and progress.
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http://dx.doi.org/10.7759/cureus.76376 | DOI Listing |
Med J Armed Forces India
October 2024
Commandant, Army Dental Centre (Research & Referral), New Delhi, India.
Background: Enamel renal gingival syndrome (ERS) is a genetic disorder caused by mutations in the FAM20A gene located on long arm of chromosome 17. It is characterized by presence of intra-oral features like hypoplastic type of amelogenesis imperfecta, fibromatosis of gingiva and nephrocalcinosis in addition to delayed eruption. The oral phenotype is evident in childhood, whereas the renal involvement is clinically silent at this age and requires further investigation for detection at later age.
View Article and Find Full Text PDFCureus
December 2024
Community Medicine, Shri. B. M. Patil Medical College, Hospital and Research Centre, BLDE (Deemed to be University), Vijayapura, IND.
Background Consanguineous marriages, defined as unions between closely related individuals, are influenced by a complex interplay of cultural, social, economic, religious, and demographic factors. These marriages are prevalent among communities such as Hindus, Muslims, Jews, Buddhists, Christians, and Parsis in Southern and Western Asia, with significant regional variations within India. There is a lack of appropriate decision-making among women in consanguineous unions, particularly those with a low level of educational attainment, which leads to an increase in the prevalence of consanguineous marriages.
View Article and Find Full Text PDFSci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Background: The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life-threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
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