New Modes of GPCR Signalling

Rapid Detection of Deletion of the PMP22 Gene from a Kindred in China
with Hereditary Neuropathy with Liability to Pressure Palsy by Real-time
Quantitative PCR
Yuan He1, Qiang Wu2, Qianqian Wang1, Wanhong Liu1* and Xiaohua He1*
1School of Medicine, Wuhan University, Wuhan 430071, China
2Wuhan General Hospital, Wuhan 430072, China
The hereditary neuropathy with liability to pressure palsy (HNPP) is an
autosomal-dominantly inherited peripheral neuropathy, and the deletion of the
peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 is the main cause
for it, accounting for approximately 70% of all cases. In this study we reported the
clinical phenotypes and electrophysiological findings from one patient in a kindred in
china who was affected by HNPP. At the same time, the deletion of PMP22 gene which
came from two patients and six asymptomatic normal members in the same kindred was
studied by real-time quantitative PCR using SYBR Green I. The copy number of the
PMP22 gene was determined by the comparative threshold cycle method and the
albumin was used as a reference gene. This study disclosed that the PMP22 gene from
two patients did deleted, which was the same as the previous report in other nations, and
six asymptomatic normal members had no deletion except two members. We conclude
the two asymptomatic members with deletion of the PMP22 gene might develop some
relative symptoms one day.
Key Words: HNPP; Peripheral neuropathy; PMP22; Real-time quantitative PCR
Acknowledgment: This work was supported by Program for New Century Excellent
Talents, Wuhan University (No. NCET-07-0630),the Scientific Research Foundation for
the Returned Overseas Chinese Scholars in State Education Ministry, and Research
Fund for the Doctoral Program of Higher Education of China (No. 20090141110010).
*Corresponding author
E-mail: liuwanhong@whu.edu.cn or hexiaohua@whu.edu.cn