10 / 14
Pediatrics Conference 2018
Journal of Pediatric Care
ISSN: 2471-805X
Page 31
March 26-27, 2018
Edinburgh, Scotland
2
nd
Edition of International Congress on
Pediatrics
T
he work in this study is done on the inherited disease
autosomal recessive primary microcephaly (MCPH).
MCPH is characterized by reduction in head circumference
(3-4 standard deviations below age and sex average) caused
by underdevelopment of the fetal cerebral cortex. This is
accompanied with variable degrees of mental retardation.
MCPH demonstrate genetic heterogeneity and to date eight
loci (MCPH1-MCPH8) and eight genes have been identified.
These MCPH genes are involved in important cellular functions
mainly related to mitosis of neurons (neurogenesis); cell cycle
regulation, organization and orientation of mitotic spindle fibers
and centrosomal production of microtubules. In the present work,
two families showing primary microcephaly were studied. DNA
samples from affected and normal individuals from both families
were tested for linkage to known MCPH loci. All known loci were
excluded from both families because of absence of linkage
and homozygosity. The disease loci on some other cytogenetic
location are yet to be discovered.
Biography
Iram Naz has completed her MBBS in 2014 from Xi’an Jiaotong University,
China and now is aMaster’s (Pediatrics) student in Xi’an Jiaotong University.
dr.ir4m@yahoo.comLinkage analysis of autosomal recessive primary microcephaly
(MCPH) in Pakistani families
Iram Naz
Xi’an Jiaotong University, China
Iram Naz, J Pediatr Care, Volume 4
DOI: 10.21767/2471-805X-C1-005