Study of human Y chromosome polymorphism in Taiwan.
The Y chromosome is one of the human chromosomes carrying significant amount of constitutive heterochromatin. To investigate the prevalence of Y chromosome polymorphism and its clinical significance in Taiwan, we analyzed the Y chromosome among 6,286 unrelated males by G-banding and, if necessary, fluorescence in situ hybridization studies. The prevalence of the Y chromosome variants were: large Y (Yq+) 3.6%, pericentric inverted Y [inv(Y)] 0.27%, and small Y (Yq-) 0.59%, respectively. More than 99% of those variants were from their biological fathers. The incidence of the Y polymorphisms was similar in three groups: children with mental retardation, other chromosomal aberrations or multiple congenital anomalies, and normal controls. The Yq12 heterochromatin region may contribute to the variation in Y chromosome length. The prevalence of inv(Y) and Yq+ was higher than those in the white population. Our results conclude that there are no indications that Yq+, inv(Y) and Yq- are connected with any deviations in intelligence or with an increased risk of physical malformations or other chromosomal disorders, which is of great help for genetic counseling.
Department of Pediatrics, National Taiwan University Hospital, Taipei.
J W
JW
Hou
T R
TR
Wang
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D013624:Taiwan; D014998:Y Chromosome