ALPHOID DNA VARIATIONS AND NON-DISJUNCTION IN DOWN’S SYNDROME: FLUORESCENCE IN SITU HYBRIDIZATION AND CYTOGENETIC STUDIES
Vorsanova SG1,*, Yurov YB2, Beresheva AK1, Iourov IY2, Monakhov VV2, Sharonin VO1, Demidova IA2, Kravets VS1
*Corresponding Author: Professor Svetlana G. Vorsanova, DSc., Director, Molecular-Cytogenetic Laboratory of Neuropsychiatric Diseases, Institute of Pediatrics and Children Surgery, Russian Ministry of Health, Taldom¬skaya str 2, 127 412 Moscow, Russia; Tel.: +7-095-484-19-48; Fax: +7-095-952-89-40; E-mail: y_yurov@yahoo. com
page: 81

Abstract

Fluorescence in situ hybridization (FISH) with an alphoid chromosome 21-specific probe was used for analy­sis of centromeric heterochromatin variations in 36 fami­lies with Down’s syndrome (DS) offspring. Variants were arbitrarily classified into five classes by size, estimated by comparison of the length of the short arm (p) of chromo­some 18. Segregation of alphoid DNA variants allowed investigation of the parental and meiotic origin of non-disjunction in 55.5% (20/36) of the families. Parental and meiotic origin of non-disjunction using a cytogenetic tech­nique was detected in 75% (27/36) of the families.

We have determined paternal origin in six families and maternal origin in 14 families by FISH, and eight families with paternal origin and 19 families with mater­nal origin of chromosome 21 by the cytogenetic technique. Correlation between non-disjunction of chromosome 21 and centromeric alphoid DNA variants have not been found. Therefore, the risk of nondisjunction is not related to the size of the alphoid DNA block of chromosome 21.

Key words: Alphoid DNA Non-disjunction; Down’s syndrome (DS); Fluorescence in situ hybridization (FISH); Chromosome 21.




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