Tan Yuen-Ming, Loke Kah-Yin
Department of Paediatrics, National University of Singapore, Singapore.
Diagn Mol Pathol. 2005 Dec;14(4):247-9. doi: 10.1097/01.pas.0000177794.27841.50.
The short stature homeobox-containing (SHOX) gene, found on the human sex chromosomes, has a role in bone growth and height determination. Haploinsufficiency of the SHOX gene is believed to be responsible for poor growth such as that observed in ther Leri-Weill syndrome (LWS). This is the first report of the study of SHOX gene copy number by the technique of quantitative real-time polymerase chain reaction (RQ-PCR) in 9 patients with LWS. Only 7 patients (78%) of LWS had one copy of the SHOX gene deleted, but 2 patients (12%) have neither a single copy gene deletion nor point mutation after direct sequencing of all 7 exons. Although the majority of patients with LWS in this study have SHOX gene haploinsufficiency, there are some patients with both copies of the SHOX gene intact with absence of any point mutations in the coding region. This may be due to abnormalities in the upstream promoter, or to the effect of other candidate gene mutations. RQ-PCR is a faster and cheaper method of studying SHOX sing-copy deletions compared with the conventional fluorescence in situ hybridization (FISH), and is recommended for the detection of SHOX gene haploinsufficiency.
短 stature 同源框基因（SHOX）位于人类性染色体上，在骨骼生长和身高决定中发挥作用。SHOX基因单倍体不足被认为是导致生长发育不良的原因，如在勒里-韦伊综合征（LWS）中观察到的那样。这是首次采用定量实时聚合酶链反应（RQ-PCR）技术对9例LWS患者进行SHOX基因拷贝数研究的报告。LWS患者中只有7例（78%）有一个SHOX基因拷贝缺失，但在对所有7个外显子进行直接测序后，有2例患者（12%）既没有单拷贝基因缺失也没有点突变。尽管本研究中大多数LWS患者存在SHOX基因单倍体不足，但也有一些患者的SHOX基因两个拷贝均完整，且编码区没有任何点突变。这可能是由于上游启动子异常，或其他候选基因突变的影响。与传统的荧光原位杂交（FISH）相比，RQ-PCR是一种更快、更便宜的研究SHOX单拷贝缺失的方法，推荐用于检测SHOX基因单倍体不足。
