title: Different segregation patterns in five carriers due to a pericentric inversion of chromosome 1.
abstract: Pericentric inversion can produce recombinant gametes; however, meiotic segregation studies on the relationship between the frequency of recombinants and the inverted segment size are rare. Triple-color fluorescence in situ hybridization (FISH) was performed to analyze the meiotic behavior in five inv(1) carriers with different breakpoints. Recombination gametes were absent in Patient 1, whereas the percentages of the recombinants in Patients 2, 3, 4, and 5 were of 9.2%, 15.3%, 17.3%, and 40.9%, respectively. A significant difference was present for the frequencies of the recombinant spermatozoa among the five patients (p < 0.001). For each patient, the frequency of the two types of recombinant gametes (dup(1p)/del(1q) or del(1p)/dup(1q)) did not exhibit a significant difference in comparison with the expected 1:1 ratio (p > 0.05). The meiotic segregation of nine inv(1) carriers (including those presented in this paper) is now available. A significant correlation was discovered between the rate of recombination and the proportion of the chromosome implicated in the inversion (R = 0.9435, p < 0.001). The frequency of the recombinant gametes was directly related to the proportion of the chromosome that was inverted. Sperm-FISH allowed an additional comprehension of the patterns of meiotic segregation and provided accurate genetic counseling.
authors.affiliation: Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine , Hangzhou , China .
authors.forename: Yuqin
authors.initials: Y
authors.lastname: Luo
authors.forename: Chenming
authors.initials: C
authors.lastname: Xu
authors.forename: Yixi
authors.initials: Y
authors.lastname: Sun
authors.forename: Liya
authors.initials: L
authors.lastname: Wang
authors.forename: Songchang
authors.initials: S
authors.lastname: Chen
authors.forename: Fan
authors.initials: F
authors.lastname: Jin
mesh_terms: D000328:Adult; D056905:Chromosome Breakpoints; D007446:Chromosome Inversion; D020090:Chromosome Segregation; D002878:Chromosomes, Human, Pair 1; D005298:Fertility / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008540:Meiosis; D010641:Phenotype; D011995:Recombination, Genetic; D013076:Sperm Count; D013081:Sperm Motility; D013094:Spermatozoa / Q000473:pathology*
keywords: Chromosome 1; infertility; meiotic segregation; pericentric inversion; sperm FISH