Parental contribution to trisomy in heterozygous androgenetic complete moles

Abstract Complete hydatidiform moles (CHMs) comprise a proliferative trophoblastic disorder and are known to be androgenetic and diploid. Androgenetic CHMs are classified as having monospermic and dispermic origins. Rarely, some CHMs have other genetic constitutions, such as biparental diploid or tetraploid. Previous studies have shown the possibility that androgenetic heterozygous CHMs have an additional chromosome with high frequency. This study aimed to comprehensively analyse the molecular karyotyping of androgenetic dispermic CHMs and the parental contribution of their additional chromosomes. Single-nucleotide polymorphism arrays were performed with the genomic DNA of CHMs and patients. The B allele frequency and selected B allele frequency plotting of CHM were visualised. Among the 31 dispermic CHMs, eight showed trisomy and one showed double trisomy; of the 10 additional chromosomes, seven were of maternal original and three were of paternal origin. In addition, three disomic chromosomes comprised one maternal and one paternal chromosome, although these should theoretically have had two paternal chromosomes in the case of androgenetic CHMs. The subclassification of heterozygous CHMs, with or without maternal contribution, is a new approach and could be a candidate indicator of gestational trophoblastic neoplasia risk.

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Single nucleotide polymorphism (SNP) allele frequency estimation in DNA pools using Pyrosequencing™

Nature Protocols ◽

10.1038/nprot.2006.442 ◽

2006 ◽

Vol 1 (6) ◽

pp. 2573-2582 ◽

Cited By ~ 34

Author(s):

Catharina Lavebratt ◽

Selim Sengul

Keyword(s):

Single Nucleotide Polymorphism ◽

Allele Frequency ◽

Frequency Estimation ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Allele Frequency Estimation ◽

Dna Pools

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Single nucleotide polymorphism-based microarray analysis for the diagnosis of hydatidiform moles

Molecular Medicine Reports ◽

10.3892/mmr.2016.5211 ◽

2016 ◽

Vol 14 (1) ◽

pp. 137-144 ◽

Cited By ~ 2

Author(s):

YINGJUN XIE ◽

XIAOJUAN PEI ◽

YU DONG ◽

HUIQUN WU ◽

JIANZHU WU ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Microarray Analysis ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Hydatidiform Moles

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Androgenetic Complete Hydatidiform Moles With p57KIP2-Positive Immunostaining

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqaa096 ◽

2020 ◽

Vol 154 (6) ◽

pp. 776-783 ◽

Cited By ~ 1

Author(s):

Hirokazu Usui ◽

Asuka Sato ◽

Masayuki Ota ◽

Jun-ichiro Ikeda ◽

Makio Shozu

Keyword(s):

High Rate ◽

Molecular Karyotyping ◽

Polymorphism Analysis ◽

Chromosome 11 ◽

First Case ◽

Hydropic Abortion ◽

Additional Chromosome ◽

Positive Immunostaining ◽

Chromosome 11P15.5 ◽

Hydatidiform Moles

Abstract Objectives Complete hydatidiform moles (CHMs) are androgenetic and have a high rate of progression to gestational trophoblastic neoplasia (GTN). CHMs are negative when immunostained for p57KIP2 protein, the product of the maternally expressed gene on chromosome 11p15.5, whereas biparental partial hydatidiform moles and hydropic abortion are positive for p57KIP2. This study presents two cases of p57KIP2-positive androgenetic CHMs and explores the cause of this inconsistency. Methods Androgenetic CHMs were diagnosed using multiplex short tandem repeat polymorphism analysis. Single-nucleotide polymorphism arrays were performed for molecular karyotyping. Results Among the consecutive 188 androgenetic CHMs, two cases were positive for p57KIP2. The first case remitted spontaneously, whereas the second case developed into low-risk GTN. The first case was positive for p57KIP2 in all villi. The karyotype was 48,XX,+7,+11, with the additional chromosome 11 confirmed to be of maternal origin. The second case presented a mosaic of both positively and negatively stained villi. The karyotype was 46,XX. Conclusions The cause of one of the CHMs was trisomy with an additional maternal chromosome 11. Although rare, the confirmation of p57KIP2-positive androgenetic CHM status is necessary to manage GTN risk.

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The AGT M235T (RS699, 4072T>C) polymorphism is not associated with elite weightlifting performance

Acta Kinesiologiae Universitatis Tartuensis ◽

10.12697/akut.2017.23.03 ◽

2018 ◽

Vol 23 ◽

pp. 34

Author(s):

Sigal Ben-Zaken ◽

Yoav Meckel ◽

Dan Nemet ◽

Michal Pantanowitz ◽

Alon Eliakim

Keyword(s):

Single Nucleotide Polymorphism ◽

Allele Frequency ◽

Genetic Background ◽

Elite Athletes ◽

National Level ◽

Nucleotide Polymorphism ◽

Single Nucleotide ◽

Common Features ◽

Genotype Frequencies ◽

The Common

It is now well established that genetic background influences an athlete’s ability to excel in different sport disciplines. Previous studies have demonstrated that among power athletes, single nucleotide polymorphism (SNP) in the AGT genotype (Thr-Thr), was significantly more prevalent among weightlifters compared to sprinters and jumpers indicating that despite the common features of these sport subtypes (short and very intense), they vary in their strength and speed abilities, as well as in their genetic make-up. The aim of the present study was to assess whether the AGT SNP can be used also to distinguish elite from national levels weightlifters. The AGT M235T genotype frequencies were assessed in 47 weightlifters (30 elite, 17 national level) and 86 non-athletes control. The Thr-Thr genotype was significantly higher among weightlifters (29.8%) compared to controls (12.8%) (p=0.048). Thr allele frequency was significantly higher among weightlifters (55.3%) compared to controls (37.8%) (p=0.021). However, there was no difference in the prevalence of the polymorphism between national level and elite athletes. In conclusion, the results suggest that the AGT polymorphism cannot predict elite competitive weightlifting performance.

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