Detection of gonosomal aberrations and testicular feminization ChrX marker testing

In the most countries, such as Germany, forensic scientists follow the principle that forensic DNA testing should not disclose diseases or genetic risks. This principle fully complies with STR typing strategies using well-established autosomal STRs, such as CODIS markers, ChrY markers, mtDNA analysis and nearly all established ChrX markers. Both ChrY and mtDNA typing may reveal some general information as to a person's ethnic origin, however, this cannot be considered as an intervention into the person's privacy. In principle, the same applies to gender identification typing with ChrX and ChrY markers. However, chromosomal aberrations such as Klinefelter syndrome and Ullrich-Turner syndrome may be recognized when ChrX markers are used. This may be diagnosed when females show (virtual) homozygosity in all the ChrX STRs investigated. Furthermore, androgen insensitivity syndrome (known also under the alternative titles of 'testicular feminization syndrome, androgen receptor deficiency or dihydrotestosterone receptor deficiency') can be recognized when a person's female phenotype is linked not with a female genotype (XX) but with the male counterpart XY.

When gonosomal aberrations or instances of androgen insensitivity or XY gonadal dysgenesis are detected, ChrX typing is no longer a valid means of kinship testing. In any case, it appears worthwhile emphasizing that such findings, when inadvertently obtained during kinship testing, fall under the premise of confidentiality. Disease-relevant information should not be revealed to an affected individual unless they explicitly ask for it.

Was this article helpful?

0 0
100 Hair Growth Tips

100 Hair Growth Tips

100 Hair Growth Tips EVERY Balding Person Should Know. This Report

Get My Free Ebook

Post a comment