Dataset Information

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

ABSTRACT: BACKGROUND:Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include intermediate alleles (45-54 CGG repeats) and premutation alleles (55-200 repeats). Normal alleles are classified as having <45 CGG repeats. Population screening studies have been conducted among American and Australian populations; however, large population-based studies have not been completed in China. METHODS AND RESULTS:In this work we present FXS screening results from 10,145 women of childbearing age from China. We first created and tested a standard panel that was comprised of normal, intermediate, premutation, and full mutation samples, and we performed the screening after confirming the consistency of genotyping results among laboratories. CONCLUSION:Based on our findings, we have determined the intermediate and premutation carrier prevalence of 1/130 and 1/634, respectively, among Chinese women.

SUBMITTER: Gao F

PROVIDER: S-EPMC7284044 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

Gao Fei F Huang Wen W You Yanjun Y Huang Jie J Zhao Juan J Xue Jin J Kang Huaixing H Zhu Yingbao Y Hu Zhengmao Z Allen Emily G EG Jin Peng P Xia Kun K Duan Ranhui R

Molecular genetics & genomic medicine 20200412 6

<h4>Background</h4>Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include intermediate alleles (45-54 CGG repeats) and premutation alleles (55-200 rep ...[more]

PMID: 32281281

Similar Datasets

Project description:BackgroundPrevious studies have yielded inconsistent results on the association between maternal dietary protein intake and birth weight. Moreover, little is known about the effects of dietary protein intake from different sources on fetal growth. This study aimed to investigate the associations of different dietary protein sources (total protein, animal protein, plant protein, and major dietary protein sources) during pregnancy with birth weight and the related adverse birth outcomes.Methods7310 women were recruited using a stratified multistage random sampling method at 0-12 months (median: 3; 10-90th percentile: 0-7) after delivery in Shaanxi, China. Maternal diets were gathered by a validated FFQ and other characteristics were collected by a standard questionnaire. Multilevel linear or logistic regression models were used to estimate birth weight changes or ORs (95% CIs) for adverse birth outcomes associated with different dietary protein sources during pregnancy.ResultsThe mean percentage of energy from total protein was 11.4% (SD 2.2), with only 27.4% of total protein derived from animal protein. Per 3% increase in energy from total protein, animal protein, and dairy protein was associated with birth weight increases of 19.4 g (95% CI 6.0-32.9), 20.6 g (4.8-36.5), and 18.2 g (4.7-31.7), respectively. Per 3% increase in energy from total protein, animal protein, and dairy protein was also associated with lower risks of low birth weight (LBW) (total protein: OR = 0.78, 95% CI 0.64-0.94; animal protein: 0.79, 0.65-0.96; dairy protein: 0.71, 0.56-0.91), small for gestational age (SGA) (total protein: 0.88, 0.79-0.98; animal protein: 0.87, 0.78-0.97; dairy protein: 0.81, 0.68-0.96), and intrauterine growth retardation (IUGR) (total protein: 0.84, 0.72-0.98; animal protein: 0.86, 0.75-0.98; dairy protein: 0.78, 0.66-0.92). We observed no associations of plant protein and other major dietary protein sources with birth weight and the above birth outcomes. The results did not change when maternal protein was substituted for fat or carbohydrate.ConclusionsAmong Chinese pregnant women with low intake of protein, higher intake of dietary protein, in particular animal protein and dairy protein, is associated with higher birth weight and lower risks of LBW, SGA, and IUGR.

Dataset Information

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

Publications

Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets