Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples

• Published in: International journal of molecular sciences Vol. 20; no. 21; p. 5251
• Main Authors: Ramos, Sandra, Rodríguez, Rebeca, Castro, Oscar, Grether, Patricia, Molina, Bertha, Frias, Sara
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 23.10.2019; MDPI
• Subjects: acrocentric chromosomes; Adult; Aneuploidy; Chromosome 13; chromosome 15p; chromosome polymorphisms; Chromosomes; Chromosomes, Human, Pair 15 - genetics; d15z1; Deoxyribonucleic acid; DNA; Families & family life; Female; Fluorescence; Fluorescence in situ hybridization; Genomes; Humans; Male; Mexico; Miscarriage; Nucleoli; Parents & parenting; Pedigree; Polymorphism; Polymorphism, Genetic; Ribosomal DNA; Satellite DNA; satellite iii; Satellites; Trisomy; Mexico; aneuploidy; D15Z1; chromosome 15p; chromosome polymorphisms; acrocentric chromosomes; satellite III
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms20215251

Variation in the location of the 15p region D15Z1 is recognized as a polymorphism in several human populations. We used high-stringency Fluorescence In Situ Hybridization (FISH) to detect D15Z1 in a Mexican cohort. Here, we report the presence of extra D15Z1 sequences on the p-arm of acrocentric chromosomes other than 15 in two groups of Mexican couples, one with healthy offspring ( = 75) and the other with aneuploid offspring ( = 87), mainly trisomy 21. The additional D15Z1 polymorphism was significantly increased in individuals with aneuploid offspring (26.4%), in comparison to individuals with healthy offspring (14%). The most frequent acceptor chromosome of D15Z1 was chromosome 13p, followed by 14p, and finally, 21p. Our results show an overall frequency of 21.6% of this polymorphism in the Mexican population and suggest that its presence might be associated with the mis-segregation of other acrocentric chromosomes and aneuploid offspring. The high frequency of the polymorphism of the D15Z1 sequence on acrocentric chromosomes other than 15 suggests a sequence homogenization of the acrocentric p arms, related to the important function of the centromere and the nucleolar organization region, which flank satellite III DNA.