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allied
academies
17
th
International Conference on
4
th
International Conference on
NEUROLOGY AND NEUROSCIENCE
&
MENTAL HEALTH AND PRIMARY CARE
October 16-18, 2017 | Toronto, Canada
J Neurol Neurorehabil Res 2017 | Volume 2 Issue 3
Mutation profiling of 100 cerebrovascular disease patients based on targeted exome sequencing
Wei li
Capital Medical University, China
T
o explore the application value of the high-throughput
second-generation sequencing technique in patients with
suspected cerebral vascular genetic defects. We select 100
caseswithsuspectedhereditarydeficiencyof cerebrovascular
disease from January 2016 to June 2017 in Beijing Tiantan
Hospital. DNA was extracted from the peripheral blood
using a blood sample extraction kit. Then the DNAs were
interrupted, repaired and connected to build the library. The
Agilent capture chip was used to capture the exons and 30bp
flanking sequences of exons of the 62 genes associated with
hereditary cerebrovascular disease. Using the Illumina X10,
the PE150 sequencing platform to sequence, using the BWA
software to analysis sequence alignment, using the GATK
software to detect themutations, the artificial analysis is used
to judge the mutation pathogenic type. And the pathogenic
mutant site is validated by the ABI 3730 sequencing platform
for the proband and his parents. There were 60 men (60%)
and 40 women (40%) from 12 to 86 years old, the average
age was 51 years (SD=13.1). Categorically 39 cases were
denied the family histories, 43 cases were family histories,
and 18 cases were not clear. 33 cases of known or suspected
pathogenic mutations were detected, accounting for 33% of
the overall detection rate, including 12 cases of pathogenic
mutations and 21 cases of suspected pathogenic mutations.
No family history or unclear samples were detected 15
cases with mutation (detection rate 26.32%). The
NOTCH3
gene mutations (CADASIL) were detected in 24 samples
(72.73%); the
COL4A1
gene (cerebrovascular disease)
mutations were detected in 2 samples (6%); the
KRIT1
gene mutations (cerebral cavernous hemangioma) were
detected in 3 samples (9%); and respectively the
PDCD10
(cerebral cavernous hemangioma), PRNP (prnp-related
amyloid angiopathy), COL4A2 ( Intracerebral hemorrhage,
susceptibility to), COL5A1 (Ehlers-danlos syndrome, Classic
type) gene mutations were detected in one each (3%). The
NOTCH3
gene had 23 missense mutations and one INDEL
mutation, including 16 reported sites and 8 new mutation
sites. The target region capture technique in high-throughput
second-generation sequencing can be effectively applied to
genetic detection of hereditary cerebrovascular disease; and
there is a higher mutation defected rate in the family history
sample; and the
NOTCH3
gene mutation is an important
proportion in hereditary cerebrovascular disease.
Speaker Biography
Li Wei is a Doctor of Neurobiology, Chief Physician and Associate Professor of
Neurology. He is specialized in the genes and correlation study of cerebral vascular
disease.
e:
lwdoctors@sina.com