TY - JOUR T1 - Inadvertent diagnosis of male infertility through genealogical DNA testing JF - Journal of Medical Genetics JO - J Med Genet SP - 366 LP - 368 DO - 10.1136/jmg.2004.023796 VL - 42 IS - 4 AU - T E King AU - E Bosch AU - S M Adams AU - E J Parkin AU - Z H Rosser AU - M A Jobling Y1 - 2005/04/01 UR - http://jmg.bmj.com/content/42/4/366.abstract N2 - The potentially informative relationship between Y chromosomes and patrilinearly inherited surnames1 has led to a major expansion in the number of commercial companies offering Y chromosomal DNA polymorphism analysis to members of the public; because of the geographical specificity of Y chromosomal types,2 many companies also offer to deduce “ancestry”. As the number of markers used in these tests increases, so does the probability of inadvertently diagnosing male infertility through the detection of Y chromosomal deletions. Using commercially typed Y markers, we here report the ascertainment of such deletions in general population samples. Samples were collected with informed consent and relevant ethical approval from the Leicestershire Research Ethics Committee (ref. 5796) and the Committee for Scientific Investigations in Greenland (ref. 505-16). Deletion analysis was carried out using standard PCR techniques; primer sequences and conditions are given in original references cited for markers in the text below. As part of a Y chromosomal haplotyping study of 2574 English males ascertained on the basis of surname and geographical origin, we included the binary marker PN253 which defines an important haplogroup, R1b, common in Western Europe.4 The PN25 polymorphism is an A to C transversion in one of three copies of the PN25 sequence, which lie in the three ampliconic repeat units g1, g2, and g35 of the AZFc region on Yq (fig 1A). In three unrelated males PN25 sequences were absent, and analysis of markers across the AZFc region showed a pattern of presence or absence … ER -