High Resolution Genotyping of AZFc Partial Deletion to Detect Exact Gene Loses and Determine The PotentialPhenotype of Spermatogenic Impairments

Background: Variable defined phenotypes, from azoospermiato oligospermia, for partial deletion of AZFc are known as deletionof different copies or significant gene loss. Remove twocopies of the DAZ gene, one copy of CDY۱ and one copy ofthe BPY۲ gene in the gr/gr deletion are indicative of the importanceof this to determining the spermatogenic impairment.This study aimed to determine the best useful genetic plan toaccess partial deletion of AZFc.Materials and Methods: From a total of ۱۴۰ infertile men referredto the Dastgheib Hospital, Shiraz, Iran, ۱۵ samples withAZFc microdelition enrolled to genotype partial deletion. Sequencetagged sites (STS) in each palindromic structures of thisregion detected to genotyping patients for the presence or lossof each copy of genes.Results: Screening markers SY۱۱۹۸ in the g۱, g۲ and g۳and sY۱۱۸۹ in the distance between r۲ and b۳ of AZFc cancomplete previous defined marker plan (presence of SY۱۱۹۱and deletion of sY۱۲۹۱) to detect deletions of gr/gr of AZFc.SY۱۱۸۹, SY۱۲۹۱ and SY۱۴۲ markers can employ to increasethe accuracy of identifying the deletion of b۲/b۳. SY۱۳۱۳ isan informative marker to differentiate CDY۱b gene from itsaligned copy, CDY۱a gene, which presence of sY۱۳۱۳ and absenceof sY۱۱۹۰ is indicative of CDY۱a gene deletion.Conclusion: We determined ten STS markers; sY۱۱۸۹, sY۱۱۹۰,sY۱۲۰۱, sY۱۱۹۱, sY۱۲۹۱, sY۱۱۹۸, sY۱۴۲, sY۱۳۱۳, sY۲۵۴ andsY۲۵۵ to high resolution genetic mapping and detect exact deletionof the region and gene copy loss in the AZFc region.

کلیدواژه ها:

Male Infertility ، Azoospermia ، Y Chromosome ، AZFc ، STS Marker