Lattanzi Wanda, Di Giacomo Marilena C, Lenato Gennaro M, Chimienti Guglielmina, Voglino Gianfranco, Resta Nicoletta, Pepe Gabriella, Guanti Ginevra
Cattedra di Genetica Medica, Facoltà di Medicina, Policlinico, Piazza Giulio Cesare, 70124 Bari, Italy.
Hum Genet. 2005 Apr;116(5):395-401. doi: 10.1007/s00439-004-1238-z. Epub 2005 Feb 22.
Sex tests based on amelogenin are part of various PCR multiplex reaction kits widely used for human gender identification and have important applications in forensic casework, prenatal diagnosis, DNA databasing and blood sample storage. The two most common sex tests based on amelogenin are represented by primer sets that delimit a 6-bp deletion on the X chromosome to produce X/Y fragments of 106/112 or 212/218 bp, respectively. Few cases of AMELY deletion, usually considered as polymorphisms, have been reported so far and a detailed characterization of the molecular alteration is still lacking. In this study, we describe a large interstitial deletion of the Y short arm encompassing the AMELY locus in two unrelated individuals. The first case was identified in an oligozoospermic, otherwise phenotypically normal, 32-year-old man during the screening for Y microdeletions performed on a sample of infertile males. The second one was found among amniotic liquid samples tested by quantitative fluorescence-polymerase chain reaction and cytogenetic analysis for prenatal diagnosis. The extent of the deletion, spanning approximately 2.5 Mb, was better characterised by pulsed-field gel electrophoresis, followed by fluorescence in situ hybridization and STS marker analysis.
基于牙釉蛋白的性别检测是广泛用于人类性别鉴定的各种聚合酶链反应（PCR）多重反应试剂盒的一部分，在法医案件处理、产前诊断、DNA数据库建设和血样储存中具有重要应用。基于牙釉蛋白的两种最常见的性别检测由引物组代表，这些引物组界定了X染色体上一个6碱基对的缺失，分别产生106/112或212/218 bp的X/Y片段。到目前为止，很少有关于牙釉蛋白Y基因（AMELY）缺失的病例报道，通常将其视为多态性，并且仍然缺乏对分子改变的详细表征。在本研究中，我们描述了两个不相关个体中Y染色体短臂的一个大的间质性缺失，该缺失包含AMELY基因座。第一例是在一名32岁少精子症但表型正常的男性不育样本进行Y微缺失筛查时发现的。第二例是在通过定量荧光聚合酶链反应和细胞遗传学分析进行产前诊断的羊水样本中发现的。通过脉冲场凝胶电泳，随后进行荧光原位杂交和序列标签位点（STS）标记分析，更好地确定了约2.5 Mb的缺失范围。
