Determination of twin zygosity using a commercially available STR analysis of 15 unlinked loci and the gender-determining marker amelogenin – a preliminary report

Yang, Min-Wen; Tzeng, Cheng‐Hwai; Tseng, Jen-Shu; Huang, Ching‐Ying

doi:10.1093/humrep/del133

Cited by 54 publications

(52 citation statements)

References 18 publications

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“…Misdiagnosed zygosity will substantially distort estimated parameters from the study, such as heritabilities or logarithm of the odds ratio (LOD) scores in linkage analyses. Historically, various methods have been applied to decide zygosity; blood type or serological markers (Selvin, 1970;Wyslouchowa, 1970); physical characteristics such as facial traits or dermatoglyphics (Forget-Dubois et al, 2003;Gao et al, 2006;Rao & Greene, 1977); zygosity questionnaires administered by twins or their parents (Bonnelykke et al, 1989;Eisen et al, 1989;Price et al, 2000); or highly informative genetic markers (Hannelius, et al, 2007;Jackson et al, 2001;Yang et al, 2006). Among them, the zygosity questionnaire confers the advantage of both simplicity and relative accuracy (Jackson et al, 2001), and so is the method of choice in large-scale epidemiologic studies.…”

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confidence: 99%

Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

Song

Lee

et al. 2010

Twin Res Hum Genet

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Determining valid zygosity is a basic and important requirement in a twin study, because misdiagnosing zygosity leads to biased results. The Healthy Twin Study has collected data from adult like-sex twins and their families since 2005. In the study, a questionnaire to determine zygosity was developed comprising four questions; one concerning the degree of resemblance, and three concerning the degree of confusion by the resemblance. Among 2,761 individuals (624 twin pairs) of twin and their families, 406 pairs of twins (mean age 38.3, 63.5% women) with both questionnaire and genotype information were selected to examine the validity of the zygosity questionnaire using 16 short tandem repeat markers. We first determined individual zygosity including undetermined category, and then decided the zygosity of a twin pair using a decision tree. Sensitivity of questionnaire diagnosis was 98.8% for monozygotic (MZ) and 88.9% for dizygotic (DZ) twins, and positive predictive value was 97.2% for MZ and 95.0% for DZ. When we compared correctly and wrongly diagnosed twin pairs, misdiagnosed DZ twins (nine pairs) showed striking similarity in stature or obesity even exceeding that of true MZ twins. Our finding suggests that a parsimonious questionnaire method of diagnosing the zygosity will be useful, and adding physical or physiological measurements to a questionnaire of zygosity diagnosis will either confound the correct diagnosis or reduce the efficiency of the study compared with using questionnaire alone or with introducing genotyping.

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mentioning

confidence: 99%

Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

Song

Lee

et al. 2010

Twin Res Hum Genet

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“…These results provide a negligible probability value for dizygosis (see, e.g., Yang et al, 2006), thereby establishing their MZ nature.…”

Section: Resultsmentioning

confidence: 67%

MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis

et al. 2013

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Non-syndromic agenesis of permanent teeth is one of the most common anomalies in human development, a multifactorial characteristic caused by genetic and environmental factors. We describe a pair of monozygotic twins who showed second premolar and third molar agenesis, albeit with different expressions. We studied the DNA of two genes, paired domain box gene 9 (PAX9) and muscle segment homeodomain-homeobox1 (MSX1), encoding transcription factors that earlier studies found were involved in the manifestation of this condition. No specific causative mutation was found. However, we detected a C→T change in MSX1 exon 2 in both twins, suggesting that this polymorphism might be involved in the trait's expression.

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“…This report describes the evaluation of the power of discrimination of a subset of polymorphic markers applied to zygosity determination in a prenatal context following aneuploidy screening. Commercially available kits have also been evaluated for zygosity determination (Guilherme et al, 2008;von Wurmb-Schwark et al, 2004;Yang et al, 2006). There was no marked difference in zygosity assessment between our panel and the multiplex-PCR kits described in the literature, all with a high power of discrimination.…”

Section: Discussionmentioning

confidence: 92%

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

et al. 2011

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In twin pregnancy studies, molecular genetic techniques have rarely been used to determine zygosity, despite their known precision and accuracy. The present work aimed to assess the power of discrimination in zygosity assessment, using a set of microsatellite markers that were routinely used for aneuploidy screening by multiplex-PCR in a prenatal context. Rapid aneuploidy screening using a group of 20 microsatellite markers (STRs) located on chromosomes 13, 18, 21 and X has been performed in our lab for over 10 years, with a total of approximately 1,500 samples studied to date. A retrospective analysis of the 257 prenatal samples from multiple pregnancies was carried out. A subset of 14 cases presenting theoretical monozygosity were re-evaluated by the use of biostatistics tools accessed via the ZygProb website. Further monozygosity determination relative to dizygosity was calculated, given an estimated overall error value of 0.093%. The results show that monozygosity had been correctly determined in all our previously studied twins. This work demonstrates that accurate zygosity assessment can be achieved with the same STRs applied in aneuploidy screening with a high power of discrimination and a matching probability of over 99.999999%.

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Determination of twin zygosity using a commercially available STR analysis of 15 unlinked loci and the gender-determining marker amelogenin – a preliminary report

Abstract: With the DNA-based 15 STR analysis amplified in a multiplex PCR, the determination of the zygosity in multifetal pregnancies is not only cost and time saving but also yields greater sensitivity and precision than conventional methods.

Cited by 54 publications

References 18 publications

Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

Validity of the Zygosity Questionnaire and Characteristics of Zygosity-Misdiagnosed Twin Pairs in the Healthy Twin Study of Korea

MSX1 and PAX9 Investigation in Monozygotic Twins With Variable Expression of Tooth Agenesis

Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening

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