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Genet Test Mol Biomarkers. 2016 Dec;20(12):786-790. doi: 10.1089/gtmb.2016.0101. Epub 2016 Oct 19.

Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy.

Author information

1
Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .

Abstract

AIMS:

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.

MATERIALS AND METHODS:

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.

RESULTS:

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.

CONCLUSIONS:

Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.

KEYWORDS:

aneuploidies; gene dosages; sex chromosome

PMID:
27997249
DOI:
10.1089/gtmb.2016.0101
[Indexed for MEDLINE]

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