[Screening and identification of human chromosome 21 genes resulting in abnormal development of fetal cerebral cortex with Down syndrome].
OBJECTIVE
To screen the candidate human chromosome 21 (HC21) genes related to mental retardation (MR).


METHODS
The expression of 127 known HC21 genes in the cerebral cortex specimen of a DS fetus and the specimen of a non-DS fetus induced due to maternal disease was detected with Affymetrix U133A gene chip. Semi-quantitative RT-PCR and reverse Northern blotting were used to identify the HC21 genes thus screened.


RESULTS
Fifty-six of the 127 known HC21 genes were not expressed in both the specimens from the DS and control fetuses, while 71 of the 127 HC21 genes were expressed in both of them. The expression of 57 of these 71 genes was up-regulated and 14 of the 71 genes was down-regulated in the DS fetal cerebral cortex compared with the non-DS control. The expression of these 71 genes was upregulated by 1.5 times and the expression of 2 genes was downregulated by 1.5 times.21 candidate key genes were thus provided.


CONCLUSIONS
Twenty-one HC21 genes are involved in the MD of DS.
Yu
Wei-dong
WD
Centre of Laboratory, Department of Obstetrics and Gynecology, Peking University People's Hospital, Beijing 100044, China.
Liang
Rong
R
Yang
Li-jun
LJ
Shang
Mei
M
Shen
Huan
H
Guan
Jing
J
Guo
Jing-zhu
JZ
D015152:Blotting, Northern; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000378:metabolism; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005315:Fetal Diseases / Q000235:genetics*; D020869:Gene Expression Profiling / Q000379:methods*; D018507:Gene Expression Regulation, Developmental; D005865:Gestational Age; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction