Abstract
Sex chromosome aneuploidies occur commonly in the general population, with an incidence of 1 in 400 newborns. However, no tests specifically targeting sex chromosomes have been carried out in prenatal diagnosis or newborn screening, resulting in late recognition of these diseases. In this study, a rapid diagnostic method for sex chromosome aneuploidies was established using Quantitative Fluorescent-PCR (QF-PCR). Ten markers were included in one multiplex QF-PCR assay, including two sex determination genes (AMXY and SRY), five X-linked short tandem repeats (STRs; DXS1053, DXS981, DXS6809, DXS1187, and DXS8377), one X/Y-common STR (X22), and two autosomal STRs (D13S305 and D21S11). Retrospective tests of 70 cases with known cytogenetic results indicated that the 10-plex QF-PCR assay could well determine sex chromosome copy numbers by both allelic peak numbers and a sex chromosome dosage calculation with the autosomal STRs as internal controls. Prospective comparison with cytogenetic karyotyping on 534 cases confirmed that the 10-plex QF-PCR assay could be well employed for sex chromosome aneuploidy diagnosis in at least the Chinese Han population. This is the first QF-PCR test for the diagnosis of sex chromosome aneuploidies in the Chinese population. This test is superior to previous designs by including up to 8 sex-linked markers covering different parts of sex chromosomes as well as employing internal controls for copy number dosage calculation in a single PCR reaction. Due to simple technique and data analysis, as well as easy implementation within routine clinical services, this method is of great clinical application value and could be widely applied.
Highlights
Sex chromosome aneuploidies are the most common disorder of sex chromosomes in humans, with an incidence of 1 in 400 newborns [1]
The incidence of sex chromosome aneuploidies is relatively high in the general population, there is no convenient and efficient method for diagnosis of sex chromosomal aneuploidies in prenatal diagnosis or newborn screening programs
This study has developed a rapid and reliable method which involves only simple PCR and capillary electrophoresis procedures
Summary
Sex chromosome aneuploidies are the most common disorder of sex chromosomes in humans, with an incidence of 1 in 400 newborns [1]. Turner syndrome (45, X) occurs in about 1 per 2,000 live born girls [2]. Klinefelter syndrome (47, XXY) occurs in approximately 1.20 per 1,000 live born male births [3], being the most common genetic cause of severe male factor infertility. Diagnosis of sex chromosomal aneuploidies is not routinely carried out prenatally or at birth, and most cases are not diagnosed until the newborns/children show related syndromes. Among these conditions, only Turner syndrome results in an identifiable physical phenotype, but the median age at diagnosis is 15 years old [5]
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