Muhammad Ainur Rosyid Ridho, Ratri Dwi Indriani

The Color Blindness Disorders and the Role of Sex-Linked Genes

Introduction

The color blindness disorders and the role of sex-linked genes. Investigate color blindness and sex-linked genes' role in inheritance. Learn about X-linked traits, Ishihara testing, and finger length ratios to identify genotypes.

Abstract

Sex linkage is defined as the pattern of allele expression and inheritance associated with an individual's sex chromosomes. Sex-linked genes are genes located on the sex chromosomes. Genes associated with the X chromosome are referred to as X-linked genes or X chromosome genes. Color blindness is a condition in which a person is unable to distinguish certain wavelengths of light that can be differentiated by normal vision. The ratio of the index finger length (2D) compared to the ring finger length (4D) is an inherited trait influenced by sex-influenced gene expression. Patterns of baldness in humans, or androgenetic alopecia (AGA), are age-related conditions characterized by hair thinning, miniaturization, and hair loss. The objective of the research titled “Color Blindness and the Role of Sex-Influenced Genes” is to determine whether a person is color blind and to identify the genotype of each individual in a group based on the size of their index finger. The methods used include an online Ishihara test for color blindness, conducted by each subject using a prepared website. For the sex-influenced gene experiment, participants made patterns of their index, ring, and middle fingers on both hands on HVS paper, and the finger lengths were observed. The results showed that all participants were not color blind (normal), and some participants had longer index fingers, longer ring fingers, or equal lengths of the index and ring fingers.

Review

This manuscript presents a study ostensibly focused on color blindness and the role of sex-linked genes, yet the abstract introduces a confusing array of topics, including the 2D:4D finger length ratio and androgenetic alopecia, which are only tangentially related or completely extraneous to the stated title and primary objective. While the definitions of sex linkage and X-linked genes are provided, they constitute basic biological knowledge and their extensive inclusion in an abstract suggests a lack of focus on novel findings or a concise problem statement. The core premise concerning color blindness is relevant to genetic studies, but its execution and integration with other concepts outlined in the abstract appear problematic from the outset. The methodology described for assessing color blindness, relying on an "online Ishihara test conducted by each subject using a prepared website," lacks the rigor expected of scientific research. Details regarding participant recruitment, sample size, control measures, or validation of the online test are absent, raising concerns about the reliability and validity of the findings. Furthermore, the inclusion of a "sex-influenced gene experiment" involving finger length patterns, where participants "made patterns of their index, ring, and middle fingers on both hands on HVS paper," seems disjointed and poorly connected to the primary stated objective of determining color blindness or identifying genotypes based on finger size. The abstract does not elaborate on how these qualitative observations of finger patterns would translate into identifying genotypes, a highly ambitious claim that requires robust genetic analysis. The results, as presented, are remarkably trivial and fail to address the ambitious objectives. Stating that "all participants were not color blind (normal)" provides no significant insight into color blindness disorders or the role of sex-linked genes. Similarly, the observation that "some participants had longer index fingers, longer ring fingers, or equal lengths of the index and ring fingers" is a descriptive observation devoid of analytical depth or any connection to the stated goal of genotype identification. This abstract reveals a significant disconnect between the title, the stated objectives (especially identifying genotypes based on finger size), and the extremely basic methodology and results. As such, the work, in its current conceptualization, falls short of the scientific rigor required for a journal publication and would necessitate a complete overhaul of its objectives, methodology, and analytical approach.

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