Author/Editor		Bache, Iben; Van Assche, Elvire; Cingoz, Sultan; Bugge, Merete; Tuemer, Zeynep; Hjorth, Mads; Lundsteen, Claes; Lespinasse, James; Winther, Kirsten; Kokalj-Vokač, Nadja
Title		An excess of chromosome 1 breakpoints in male infertility
Type		članek
Source		Eur J Hum Genet
Vol. and No.		Letnik 12, št. 12
Publication year		2004
Volume		str. 993-1000
Language		eng
Abstract		In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We exduded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.
Descriptors		INFERTILITY, MALE OLIGOSPERMIA KARYOTYPING CHROMOSOME ABERRATIONS CHROMOSOME BREAKAGE IN SITU HYBRIDIZATION, FLUORESCENCE TRANSLOCATION (GENETICS) CHROMOSOMES, HUMAN, PAIR 1 CHROMOSOME BANDING SPERM MOTILITY