FMR1 Gene CGG Repeat Allele Distribution in Turkish Women with Ovarian Dysfunctions

A retrospective analysis of 152 females tested for FMR1 CGG repeats at Konya City Hospital between 2021 and 2022. The dataset includes allele distributions categorized as low-normal, normal, or high-normal and their association with conditions like premature ovarian insufficiency (POI), primary amenorrhea, secondary amenorrhea, and infertility. It represents the first analysis of normal/intermediate range repeat distribution in a Turkish cohort.

Use Cases

• Investigate the association between low-normal CGG repeat alleles and premature ovarian insufficiency based on reported allele frequencies.
• Analyze the distribution of high-normal FMR1 alleles across different ovarian dysfunction phenotypes mentioned in the description.
• Study the prevalence of premutations and full mutations in a Turkish population cohort.
• Compare allele frequency patterns between referral groups such as POI, primary amenorrhea, secondary amenorrhea, and infertility.

Strengths

• Data from a specific cohort of 152 females provides a focused sample.
• Includes allele frequency percentages for low-normal and high-normal alleles across four distinct clinical conditions.
• The dataset has a defined temporal coverage from 2021 to 2022.

Limitations

• The dataset is very small at 54.3 KB, indicating limited scope and sample size.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

Provenance

Source

figshare admin karger

Collection Method

Retrospective analysis of clinical test results.

Time Range

2021-2022

Freshness

Last updated 2026-06-03 05:55:13; freshness should be verified.

Geography

Turkey (Konya City Hospital)