Alfadhli Suad, Salim Matra, Al-Awadi Sadiqa
Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, Kuwait.
Med Princ Pract. 2004 Nov-Dec;13(6):312-5. doi: 10.1159/000080467.
To determine the germline mutation in an extended family in which 1 member was diagnosed clinically with von Hippel-Lindau (VHL) disease and to investigate 3 generations of the family.
The polymerase chain reaction-single strand conformation polymorphism sequencing techniques were used to identify the germline mutation in the VHL gene in the patient and also to study 9 other members of the extended family over 3 generations.
The patient and 3 other members of the family were shown to have the same mutation in the splice donor site of the first intron. The mutation was identified as IVS1 + 1 G-->T.
The findings of this study indicate the presence of VHL mutation in a Kuwaiti family with Arab parentage. It is hoped that the study would contribute to understanding the types of mutation in VHL in the Middle East. Its early detection and diagnosis would help in genetic counseling of VHL patients.
确定一个大家庭中的种系突变情况，该家庭中有一名成员临床诊断为冯·希佩尔-林道（VHL）病，并对该家族三代人进行调查。
采用聚合酶链反应-单链构象多态性测序技术，鉴定患者VHL基因中的种系突变，并对该大家庭三代中的其他9名成员进行研究。
患者及该家族的其他3名成员在第一个内含子的剪接供体位点存在相同突变。该突变被鉴定为IVS1 + 1 G→T。
本研究结果表明，一个有阿拉伯血统的科威特家族存在VHL突变。希望该研究有助于了解中东地区VHL的突变类型。其早期检测和诊断将有助于VHL患者的遗传咨询。
