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Y Chromosome Microdeletion Gene Detection CapitalBio

Infertility caused by male factors has significantly exceeded that of females, accounting for 60%. The spermatogenesis disorders caused by genetic factors such as chromosomal abnormalities and gene mutations account for more than 30%, of which the Y chromosome microdeletion is the second largest genetic factor leading to male infertility, and the incidence is second only to Klinefelter syndrome (Klinefelter syndrome, 47, XXY), accounting for about 10% of male infertility patients.

y chromosome microdeletion gene detection

Features of Y Chromosome Microdeletion Gene Detection

There are three genes (six loci) related to spermatogenesis on the long arm of the Y chromosome, called azoospermia factor (AZF), AZF is further divided into AZFa (SY84, SY86), AZFb (SY127, SY134) , AZFc (SY254, SY255), microdeletions in any one region or multiple regions can lead to dysfunction of spermatogenesis.

RegionClinicopathological ManifestationsSuggestionsFrequency
AZFaAzoospermia, pathological types are mostly Sertoli cell only syndrome [SCOS]Testicular sperm retrieval is not recommended for IVF, suggests adoption or non-spousal artificial insemination0.5 – 4%
AZFbAzoospermia, pathological types are mostly SCOS or blocked spermatogenesis
1 – 5%

1 – 3%
AZFabcAzoospermia, karyotype is mostly 46, XX sex reversal syndrome or isodicentric Y chromosome
AZFcAzoospermia, severe oligospermia, progressive decline in sperm count, and can also be passed on to male offspringFertility as soon as possible or frozen sperm, 50% cases can obtain sperm by testicular puncture for ICSI conception~80%

Specification of Y Chromosome Microdeletion Gene Detection

Sample Type2~4ml peripheral blood
TAT5 days

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