in their recent study determined a microduplication in CHRNA7 gene, mapped at 15q13.3
chromosomal region, in a case clinically diagnosed as autism spectrum disorder (14).
We hypothesized that if both the fetus and mother had CNAs in a particular
chromosomal region, then there would be no net difference in the size distribution of that region when compared with another
chromosomal region without any CNAs.
A method that is commonly used for microdeletion detection is fluorescence in situ hybridization (FISH), which is a molecular cytogenetic technique based on fluorescently labeled DNA probes specific for a
chromosomal region of interest.
The study found that the genetic sequencing data demonstrates that the Iceman had a very specific genetic mutation, namely that he was homozygous for the minor allele (GG) of rs10757274, located in
chromosomal region 9p21.
Two gene variants in a
chromosomal region known as 17q21 also marked out these children as more likely to be prescribed antibiotics as infants.
Devaux et al., "Deletion of
chromosomal region 13q14.3 in childhood acute lymphoblastic leukemia," Leukemia, vol.
Another locus showing linkage with IBGC was mapped to the 8p21.1-8q1 1.23
chromosomal region (IBGC3) in a large Chinese family 3.
Deletions of the 9p21
chromosomal region are frequent in childhood ALL and encompass CDKN2A (MTS1), a gene encoding both pl6INK4a and p14ARF p16INK4a, an inhibitor of cyclin-dependent kinase, inhibits Rb phosphorylation, whereas p14ARF activates TP53 via interaction with the MDM2 protein 1.
One
chromosomal region containing the dystrophin gene was found to be associated with the syndrome.
In addition, the frequencies of sperm with duplications were slightly higher than the frequencies of sperm with deletions for the same
chromosomal region. These findings are in agreement with previous studies of healthy men (Bosch et al.
Conversely, if a
chromosomal region was commonly deleted, then a tumor suppressor gene was selected as the target of the FISH probe.
