1例完全性腺发育不良患者的分子遗传学研究

Molecular genetic investigation for a case of 46,XY with complete gonadal dysgenesis

目的对1例完全性腺发育不良患者进行分子遗传学研究并寻找致病原因。方法对患者的SRY(sex-determining re-gion Y)基因进行PCR和荧光原位杂交检测并进行DHH(desert hedgehog)基因测序,对患者进行全基因组的拷贝数变异检测。结果 DHH和SRY基因无突变。SRY基因所在位置正常。全基因组的拷贝数检测在12q13.12上有250 kb的拷贝数重复,覆盖TUBA1A,TUBA1B,LMBR1L,DHH,RHEBL1,MLL2,PRKAG1和DDN 8个基因。与父母双亲的基因组比对,该片段的拷贝数重复是新发生的。结论该患者DHH基因拷贝数重复可能是完全性腺发育不良的原因。

Objective To seek the pathogenesis of a patient with complete gonadal dysgenesis with molecular genetics methods. Meth- ods The desert hedgehog （DHH） and sex-determining region Y（SRY） gene were detected. SRY gene was amplified and detected with fluorescence in situ hybridization. The sequence of DHH gene was tested. The variation of copy number in the whole genome was detec- ted by gene array. Results No mutation was found in both DHH and SRY gene. A copy number variation in Chromosome 12 was found in the patient but not in parents of the patient. The duplicate region of 12q13.12 was 250 kb in length where 8 genes, i.e. , TUBAIA, TUBAIB, LMBRIL, DHH, RHEBL1, MLL2, PRKAG1 and DDN, were overlapped. Conclusion The copy number variation in DHH gene may be responsible for complete gonadal dysgenesis in this case.