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[Identification of a HPGD mutation in three families affected with primary hypertrophic osteoarthropathy]
Wanying Zhang1, Tao Wang, Shuaiwu Huang
1Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, China. xiulizhao@ibms.pumc.edu.cn.
Insights
A common HPGD gene mutation, c.310_311delCT, was identified in Chinese families with primary hypertrophic osteoarthropathy (PHO). High-resolution melting (HRM) analysis offers a sensitive and efficient method for detecting this mutation.
Area of Science:
- Genetics
- Molecular Biology
- Medical Research
Background:
- Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disorder.
- Identifying the genetic basis of PHO is crucial for diagnosis and understanding disease mechanisms.
- The HPGD gene is implicated in PHO pathogenesis.
Purpose of the Study:
- To detect mutations in the HPGD gene in three Chinese pedigrees affected with PHO.
- To evaluate the utility of DNA sequencing and high-resolution melting (HRM) analysis for HPGD mutation detection.
Main Methods:
- Genomic DNA was extracted from peripheral blood samples.
- Polymerase Chain Reaction (PCR) and direct DNA sequencing were used to identify HPGD gene mutations.
- Nested PCR amplified target regions, followed by HRM analysis and confirmation with direct sequencing.
Main Results:
- A homozygous c.310_311delCT mutation was found in two affected individuals.
- A heterozygous c.310_311delCT mutation was identified in a third affected individual.
- HRM analysis effectively differentiated between wild-type, heterozygous, and homozygous genotypes.
Conclusions:
- The c.310_311delCT mutation is likely prevalent in the Chinese population with PHO.
- HRM analysis is a simple, rapid, and sensitive method for genetic testing of HPGD mutations.
Objective:
To detect mutation of HPGD gene among three pedigrees affected with primary hypertrophic osteoarthropathy (PHO) by DNA sequencing and high-resolution melting (HRM) analysis.
Methods:
Genomic DNA was extracted from peripheral blood samples collected from the pedigrees. PCR and direct sequencing were carried out to identify potential mutations of the HPGD gene. Amplicons containing the mutation spot were generated by nested PCR. The products were then subjected to HRM analysis using the HR-1 instrument. Direct sequencing was carried out in family members and healthy individuals to confirm the result of HRM analysis.
Results:
A homozygous mutation c.310_311delCT was detected in 2 affected probands, while a heterozygous mutation c.310_311delCT was detected in the third proband. HRM analysis of the fragments encompassing HPGD exon 3 showed 3 curve patterns representing three different genotypes, i.e., the wild type, the c.310_311delCT homozygote, and the c.310_311delCT heterozygote. Result of DNA sequencing was consistent with that of the HRM analysis and phenotype of the subjects.
Conclusion:
The c.310_311delCT mutation may be the most prevalent mutation among Chinese population. HRM analysis has provided an optimized method for genetic testing of HPGD mutation for its simplicity, rapid turnover and high sensitivity.
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