科研之友
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摘要
The centromere is responsible for the correct inheritance of eukaryotic chromosomes during cell division. Centromere protein B (CENP-B) and its 17 base pair binding site (CENP-B box), which appears at regular intervals in centromeric alpha-satellite DNA (alpha-satDNA), are important for the assembly of the centromere components. Therefore, it is conceivable that CENP-B box mutations may induce errors in cell division. However, the association between the deoxynucleotide alterations of the CENP-B box and the extra chromosome 21 (Chr21) present in patients with Down syndrome (DS) remains to be elucidated. The mutational spectrum of the a-satDNA, including 4 functional CENP-B boxes in Chr21 from 127 DS and 100 healthy children were analyzed by direct sequencing. The de novo occurrences of mutations within CENP-B boxes in patients with DS were excluded. The prevalence of 6 novel mutations (g.661delC, g.1035_ 1036insA, g.1076_ 1077insC, g.670T>G, g.1239A>T, g.1343T>C) and 3 single nucleotide polymorphisms (g.727C/T, g.863A/C, g.1264C/G) were not significantly different between DS and controls (P>0.05). However, g.525C/G (P=0.01), g.601T/C (P=0.00000002), g.1279A/G (P=0.002), g.1294C/T (P=0.0006) and g.1302 G/T (P=0.004) were significantly associated with the prevalence of DS (P<0.05). The results indicated that CENP-B boxes are highly conserved in DS patients and may not be responsible for Chr21 nondisjunction events. However, alpha-satDNA in Chr21 is variable and deoxynucleotide deletions, mutations and polymorphisms may act as potential molecular diagnostic markers of DS.
- 出版日期2017-4
- 单位重庆医科大学
