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[Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda]

Hai-yan Zhu¹, Jie Li, Rui-fang Zhu

¹Prenatal Diagnosis Center, the Affiliated Drumtower Hospital, Nanjing University Medical School, Nanjing, Jiangsu, 210008 People's Republic of China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|August 7, 2008

Abstract

Objective:

To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.

Methods:

Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.

Results:

A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation.

Conclusion:

Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.

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