This comprehensive review explores the multifaceted relationship between increased homozygosity and human fertility, delving into the genetic, ethical, cultural, and public health dimensions of this complex phenomenon. Homozygosity, characterized by identical alleles at specific gene loci, can result from consanguineous marriages, genetic drift, and population isolation. The review highlights key findings, including the heightened risk of recessive genetic disorders, the implications for immune system diversity, and the influence on complex traits and diseases. It underscores the critical role of genetic counseling in addressing these consequences, considering the ethical implications, and respecting cultural practices. The delicate balance between genetic diversity and cultural norms is emphasized, calling for increased awareness and community engagement. Looking ahead, the review suggests emerging technologies, longitudinal studies, and interdisciplinary research as crucial avenues for further exploration, with the ultimate goal of informing effective public health policies and interventions that safeguard genetic diversity and cultural traditions for future generations.
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http://dx.doi.org/10.7759/cureus.49000 | DOI Listing |
Indian J Med Res
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu.
View Article and Find Full Text PDFJ Mol Diagn
December 2024
Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon. Electronic address:
Consanguinity, prevalent in certain populations due to cultural and social factors, significantly increases the risk of genetic autosomal recessive (AR) disorders. In Lebanon, consanguineous marriages constitute 35.5% of unions, with first cousin marriages being the most common.
View Article and Find Full Text PDFFront Genet
December 2024
Research Group Animal Immunogenomics, CEITEC - VETUNI Brno, Brno, Czechia.
Manul () is the only representative of the genus which makes up the Leopard Cat lineage along with the genus . Their habitat is characterized by harsh environmental conditions. Although their populations are probably more stable than previously thought, it is still the case that their population size is declining.
View Article and Find Full Text PDFMol Ecol
December 2024
Senckenberg Biodiversity and Climate Research Centre (BiK-F), Frankfurt am Main, Germany.
The blue whale is an endangered and globally distributed species of baleen whale with multiple described subspecies, including the morphologically and genetically distinct pygmy blue whale. North Atlantic and North Pacific populations, however, are currently regarded as a single subspecies despite being separated by continental land masses and acoustic call differences. To determine the degree of isolation among the Northern Hemisphere populations, 14 North Pacific and 6 Western Australian blue whale nuclear and mitochondrial genomes were sequenced and analysed together with 11 publicly available North Atlantic blue whale genomes.
View Article and Find Full Text PDFJ Genet Genomics
December 2024
College of Wildlife and Protected Area, Northeast Forestry University, Harbin, Heilongjiang 150040, China; BGI Life Science Joint Research Center, Northeast Forestry University, Harbin, Heilongjiang 150040, China; National Forestry and Grassland Administration Research Center of Engineering Technology for Wildlife Conservation and Utilization, Harbin, Heilongjiang,150040 China. Electronic address:
Inbreeding increases genome homozygosity within populations, which can exacerbate inbreeding depression by exposing homozygous deleterious alleles that are responsible for declines in fitness traits. In small populations, genetic purging that occurs under pressure of natural selection acts as an opposing force, contributing to a reduction of deleterious alleles. Both inbreeding and genetic purging are paramount in the field of conservation genomics.
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