Karyotype
analysis refers to the pairing and grouping of chromosomes to reveal whether
the organism accords with the inherent chromosomal characteristics, to
determine if the organism has chromosomal abnormalities. Karyotype analysis can
detect whether there are abnormalities in chromatin length, centromere
position, the ratio of long and short arms, and the presence or absence of
satellites. Many rare diseases have
obvious manifestations of chromosomal structural abnormalities, making it a
strategy to determine the cause of diseases from a macroscopic perspective of
genetics.
Abnormalities
in Chromosome Number
More
or less chromosomes can lead to the occurrence of some rare diseases. Patients
with Down syndrome show abnormal mental development and multiple organ
malformations due to the presence of an extra chromosome 21. And the deletion
or partial deletion of the X chromosome in females leads to Turner syndrome,
which manifests abnormal development of reproductive organs.
Abnormalities
in Chromosome Structure
Chromosomal
structural abnormalities include duplication, translocation, inversion, and
insertion, etc. Loss of the long arm of chromosome 7 or of the long arm of
chromosome 15 causes Williams's syndrome and Prader-Willi Syndrome,
respectively, both of which present with intellectual disability.
Walker-Warburg syndrome, acute leukemia and muscular
dystrophy-dystroglycanopathy, type a, 1 are all related to chromosome 9
inversion. In addition, Potocki-Lupski syndrome is characterized by an
additional copy of a small segment of chromosome 17 onto chromosome 11.
Microdeletion
/ Microduplication of Chromosome
The
missing or replication of a small fragment of DNA leads to the microdeletion or
microduplication of chromosomes. Typical examples include the 2q23.1 deletion
which causes seizures and developmental delays and 15q11–q13 deletion relevant
to Angelman syndrome.
Karyotype
analysis is an essential and fundamental step for the diagnosis of rare
diseases. Our company has a mature diagnostics development system that provides
you with a high-level research team and the necessary resources to support the karyotype
analysis for rare disease.
1.Canonical
Karyotyping
The
cells from patients with rare diseases or animal models are retrieved to
analyze the karyotype by canonical G-band method, or C-, Q-, R-, T-band
methods.
2.Spectral
Karyotyping
To
overcome the drawbacks of canonical analysis, spectrometry uses different dyes
to detect subtle chromatin abnormalities with higher sensitivity and
specificity.
3.Digital
Karyotyping
Big
data based on next-generation sequencing technology is used to analyze genome
structure, ploidy number, gene mutation, copy number variation, etc.
With
the participation of genetic experts possessing rich project experience, our
company provides one-stop rare disease karyotype analysis service to help you
quickly complete the genetic testing related to rare diseases.
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