Complete moles have paternal chromosomes but maternal mitochondrial DNA

@article{Wallace2004CompleteMH,
  title={Complete moles have paternal chromosomes but maternal mitochondrial DNA},
  author={Douglas C. Wallace and Urvashi Surti and Camellia W. Adams and Aron E. Szulman},
  journal={Human Genetics},
  year={2004},
  volume={61},
  pages={145-147}
}
SummaryComplete hydatidiform moles contain only paternal chromosomes. To learn more of their origin, we used restriction endonuclease site polymorphisms found in the parental mitochondrial DNAs to demonstrate that moles contain exclusively maternal mitochondrial DNA. Thus, moles must arise from the fusion of one or two sperm with a mature but anucleate ovum. 

Twin pregnancies with diploid hydatidiform mole and co-existing normal fetus may originate from one oocyte.

It is possible that twin pregnancies comprising a diploid mole and a normal co-fetus most often derive from one single oocyte fertilized with one or more spermatozoa, which can explain why diploids moles are far more frequent than triploid moles in twin pregnancies.

Androgenetic origin of African complete hydatidiform moles demonstrated by HLA markers

The polymorphism of HLA antigens was used as a marker to investigate the genetic origin of hydatidiform moles in Senegal and a preferential inheritance in the mole of the shared specificities was observed.

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

The point mutation was found in mt DNA extracted from peripheral blood in all members of the family with the exclusion of the father, and was present in a homoplasmic fashion, despite the phenotypic heterogeneity of disease presentation among family members.

Frequency of heterozygous complete hydatidiform moles, estimated by locus-specific minisatellite and Y chromosome-specific probes

Examination of RFLPs with a small panel of locus-specific minisatellite probes provides a powerful method of classifying hydatidiform mole, enabling the rare heterozygous 46,XX CHM to be accurately identified.

Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns

Comparisons with nuclear gene frequencies suggest that the Bushmen appear to have a higher evolutionary rate for mtDNA than the other four populations, and may be the product of an elevated mutation rate or fixation of mutations in mtDNA.

Hydatidiform Moles: Genetic Basis and Precision Diagnosis.

Despite being the cornerstone of diagnosis, routine morphologic assessment of hydatidiform moles continues to suffer from interobserver diagnostic variability, emphasizing the need for new diagnostic modalities.

Genomic imprinting in gestational trophoblastic disease--a review.

These rare BiCHM are found in patients with recurrent HM and appear to be associated with an autosomal recessive condition predisposing to molar pregnancies and isolation of the defective gene will lead to a greater understanding of the function of genomic imprinting in early development.

Molecular diagnosis of gestational trophoblastic disease

  • P. Hui
  • Medicine
    Expert review of molecular diagnostics
  • 2010
Recently, PCR-based short tandem repeat DNA genotyping has emerged as a powerful diagnostic measure in the workup of gestational trophoblastic disorders, particularly hydatidiform moles.

Genotyping diagnosis of gestational trophoblastic disease: frontiers in precision medicine

With rapid acquisition of molecular diagnostic capabilities in the clinical practice, DNA genotyping has become closely integrated into the routine diagnostic workup of various forms of gestational trophoblastic disease.

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