Zhu Hai-yan, Li Jie, Zhu Rui-fang, Wu Xing, Duan Hong-lei, Yang Ying, Zhang Ying, Hu Yali
Prenatal 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. 2008 Aug;25(4):421-3.
To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.
Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.
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.
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.
检测一个X连锁迟发性脊椎骨骺发育不良（SEDL）家系中SEDL基因的突变情况。
运用逆转录聚合酶链反应（RT-PCR）和序列分析技术，对该X-SEDL家系中的两名患者及三名女性进行检测。
在患者的cDNA序列中检测到SEDL基因的G209A突变，通过对SEDL基因第4外显子的序列分析得以证实。先证者的女儿为该突变的携带者。
鉴于SEDL基因相对较小，提取总RNA后经RT-PCR，有可能对SEDL基因的cDNA进行序列分析。通过cDNA测序可检测开放阅读框中的突变。这比逐个扩增和检测外显子相对更为快速和直接。
