Campos-Acevedo Luis Daniel, Ibarra-Ramirez Marisol, de Jesús Lugo-Trampe José, de Jesús Zamudio-Osuna Michelle, Torres-Muñoz Iris, Del Roble Velasco-Campos Ma, Rojas-Patlan Luz, Rodríguez-Sánchez Irám Pablo, Martínez-de-Villarreal Laura Elia
Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
Genet Test Mol Biomarkers. 2016 Dec;20(12):786-790. doi: 10.1089/gtmb.2016.0101. Epub 2016 Oct 19.
In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy.
This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients with known sex chromosome aneuploidy (positive control group), and 1000 healthy newborns were included. Gene dosages were determined using quantitative real-time polymerase chain reaction (RT-PCR). Values with standard deviations (SDs) of three or more were considered abnormal.
Men and women differed in the gene dosage of the SRY gene. Cases with Turner syndrome showed values below 3 SDs for SHOX and VAMP7 genes, and cases with Klinefelter syndrome showed values above 3 SDs for SHOX and VAMP7 genes. Two suspected cases of sex chromosome aneuploidy were diagnosed using our neonatal screening strategy; these cases were confirmed as Turner syndrome and 47,XYY syndrome by karyotyping.
Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.
在本研究中，我们检测了身材同源框基因（SHOX）、囊泡相关膜蛋白7（VAMP7）和SRY基因的剂量，以建立一种使用滤纸保存的外周血样本筛查新生儿性染色体非整倍体的方案。我们还测量了与核型的相关性，以评估该方法作为新生儿筛查策略的可行性。
这是一项观察性、描述性、比较性的盲法研究。纳入了32名健康年轻人（17名女性，15名男性；年龄≥18岁）、4名已知性染色体非整倍体的患者（阳性对照组）和1000名健康新生儿。使用定量实时聚合酶链反应（RT-PCR）测定基因剂量。标准差（SD）为3或更高的值被视为异常。
男性和女性的SRY基因剂量不同。特纳综合征患者的SHOX和VAMP7基因值低于3个标准差，克氏综合征患者的SHOX和VAMP7基因值高于3个标准差。使用我们的新生儿筛查策略诊断出2例疑似性染色体非整倍体病例；这些病例经核型分析确诊为特纳综合征和47,XYY综合征。
我们的数据为使用RT-PCR确定染色体性别和新生儿性染色体非整倍体筛查奠定了基础。
