• PMID: 10908277
• Gene Name: DAZ1
• Condition: Infertility
• Association: The study concludes that further studies are required to evaluate more precisely the frequency of Y deletion mosaicism, both in fertile and infertile men
• Mutation: Y chromosome deletions
• Population size: 181
• Population details: 181 ( 95 non-obstructive azoospermia, 86 severe oligozoospermia)
• Sex: Male
• Infertility type: Male infertility

Y chromosome microdeletions and germinal mosaicism in infertile males

Le Bourhis C, Siffroi JP, McElreavey K, Dadoune JP.

Molecular deletions of the Y chromosome long arm are a frequent cause of male infertility. Because these deletions are thought to be inherited from fathers without Y chromosome deletions, the question arises as to whether their relatively high incidence in the male population could be due to the existence of a mosaicism in somatic and/or germinal paternal cells. This study included a total of 181 infertile men, among whom 18 were found to have an abnormal karyotype. In the other 163, polymerase chain reaction (PCR) analysis detected nine (5.5%) Y chromosome microdeletions. Blood, spermatozoa or testicular cells from 47 men (27 oligozoospermia, 20 azoospermia), including six Y-deleted patients, were screened for mosaicism using double target fluorescence in-situ hybridization (FISH) with Y centromeric and deleted in azoospermia (DAZ) gene-specific probes. Results indicated that: (i) percentages of double (intact Y chromosome) or single (deleted Y chromosome) fluorescent signals by FISH were in agreement with PCR data, thus demonstrating the reliability of the method; and (ii) a weak germ cell mosaicism was found in only two oligozoospermic patients, carrying 1.97 and 4.13% respectively of spermatozoa with a deleted Y chromosome. Further studies on larger populations are needed to evaluate precisely the incidence of Y deletion mosaicisms in infertile men. FAU - Le Bourhis, C AU - Le Bourhis C AD - Service d'Histologie, Biologie de la Reproduction et Cytogénétique et CECOS, Hôpital Tenon, 4 Rue de la Chine, 75020 Paris, France. FAU - Siffroi, J P AU - Siffroi JP FAU - McElreavey, K AU - McElreavey K