Pilot fragile X screening in normal population of Taiwan

Ching Cherng Tzeng, Wei Chen Cho, Pao-Lin Kuo, Robert M. Chen

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Fragile X syndrome (FXS) is the most common hereditary form of mental retardation. Molecular analysis of the FMR1 gene has now been applied to diagnosis and carrier detection. Because treatment is not feasible, prevention of FXS by prenatal diagnosis of carrier women early during pregnancy is important. The aim of this pilot study was to ascertain the prevalence of mutant FMR1 gene in normal population of Taiwan and to evaluate the efficacy of a betaine-based polymerase chain reaction (PCR) and nonradioactive Southern blot assays. The DNA was randomly and anonymously collected from 100 women and 100 men. The results showed 62% of the women were heterozygous for the CGG-repeat size in FMR1 gene. One of 300 X chromosomes in this study showed premutation, with 95 CGG repeats. All other chromosomes have CGG repeats ranging from 19 to 52, with eight chromosomes (3%) having more than 40 CGG repeats. The most prevalent allele has 29 repeats (48.1%), followed by 30 (24.0%) and 36 (9.5%), respectively. The results of this study reconfirmed previous reports that the prevalent FMR1 CGG repeat alleles in Chinese population are different from that of other populations. However, the prevalence of premutation gene seems to be comparable among them. The betaine-based PCR could minimize the intrinsic problem of preferential amplification and may reliably determine the different allele repeats in heterozygous females. This nonradioactive Southern blot protocol is safe, efficient, and inexpensive. However, further technical improvement may be needed to be more cost-effective for a wide screening of all pregnant women.

Original languageEnglish
Pages (from-to)152-156
Number of pages5
JournalDiagnostic Molecular Pathology
Volume8
Issue number3
DOIs
Publication statusPublished - 1999 Sep 1

Fingerprint

Taiwan
Fragile X Syndrome
Betaine
Alleles
Southern Blotting
Population
Genes
Polymerase Chain Reaction
Chromosomes, Human, Pair 3
X Chromosome
Prenatal Diagnosis
Intellectual Disability
Pregnant Women
Chromosomes
Costs and Cost Analysis
Pregnancy
DNA
Therapeutics

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology

Cite this

Tzeng, Ching Cherng ; Cho, Wei Chen ; Kuo, Pao-Lin ; Chen, Robert M. / Pilot fragile X screening in normal population of Taiwan. In: Diagnostic Molecular Pathology. 1999 ; Vol. 8, No. 3. pp. 152-156.
@article{2fd13f148713488aa0031a42a0c79094,
title = "Pilot fragile X screening in normal population of Taiwan",
abstract = "Fragile X syndrome (FXS) is the most common hereditary form of mental retardation. Molecular analysis of the FMR1 gene has now been applied to diagnosis and carrier detection. Because treatment is not feasible, prevention of FXS by prenatal diagnosis of carrier women early during pregnancy is important. The aim of this pilot study was to ascertain the prevalence of mutant FMR1 gene in normal population of Taiwan and to evaluate the efficacy of a betaine-based polymerase chain reaction (PCR) and nonradioactive Southern blot assays. The DNA was randomly and anonymously collected from 100 women and 100 men. The results showed 62{\%} of the women were heterozygous for the CGG-repeat size in FMR1 gene. One of 300 X chromosomes in this study showed premutation, with 95 CGG repeats. All other chromosomes have CGG repeats ranging from 19 to 52, with eight chromosomes (3{\%}) having more than 40 CGG repeats. The most prevalent allele has 29 repeats (48.1{\%}), followed by 30 (24.0{\%}) and 36 (9.5{\%}), respectively. The results of this study reconfirmed previous reports that the prevalent FMR1 CGG repeat alleles in Chinese population are different from that of other populations. However, the prevalence of premutation gene seems to be comparable among them. The betaine-based PCR could minimize the intrinsic problem of preferential amplification and may reliably determine the different allele repeats in heterozygous females. This nonradioactive Southern blot protocol is safe, efficient, and inexpensive. However, further technical improvement may be needed to be more cost-effective for a wide screening of all pregnant women.",
author = "Tzeng, {Ching Cherng} and Cho, {Wei Chen} and Pao-Lin Kuo and Chen, {Robert M.}",
year = "1999",
month = "9",
day = "1",
doi = "10.1097/00019606-199909000-00008",
language = "English",
volume = "8",
pages = "152--156",
journal = "Diagnostic Molecular Pathology",
issn = "1052-9551",
publisher = "Lippincott Williams and Wilkins",
number = "3",

}

Pilot fragile X screening in normal population of Taiwan. / Tzeng, Ching Cherng; Cho, Wei Chen; Kuo, Pao-Lin; Chen, Robert M.

In: Diagnostic Molecular Pathology, Vol. 8, No. 3, 01.09.1999, p. 152-156.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Pilot fragile X screening in normal population of Taiwan

AU - Tzeng, Ching Cherng

AU - Cho, Wei Chen

AU - Kuo, Pao-Lin

AU - Chen, Robert M.

PY - 1999/9/1

Y1 - 1999/9/1

N2 - Fragile X syndrome (FXS) is the most common hereditary form of mental retardation. Molecular analysis of the FMR1 gene has now been applied to diagnosis and carrier detection. Because treatment is not feasible, prevention of FXS by prenatal diagnosis of carrier women early during pregnancy is important. The aim of this pilot study was to ascertain the prevalence of mutant FMR1 gene in normal population of Taiwan and to evaluate the efficacy of a betaine-based polymerase chain reaction (PCR) and nonradioactive Southern blot assays. The DNA was randomly and anonymously collected from 100 women and 100 men. The results showed 62% of the women were heterozygous for the CGG-repeat size in FMR1 gene. One of 300 X chromosomes in this study showed premutation, with 95 CGG repeats. All other chromosomes have CGG repeats ranging from 19 to 52, with eight chromosomes (3%) having more than 40 CGG repeats. The most prevalent allele has 29 repeats (48.1%), followed by 30 (24.0%) and 36 (9.5%), respectively. The results of this study reconfirmed previous reports that the prevalent FMR1 CGG repeat alleles in Chinese population are different from that of other populations. However, the prevalence of premutation gene seems to be comparable among them. The betaine-based PCR could minimize the intrinsic problem of preferential amplification and may reliably determine the different allele repeats in heterozygous females. This nonradioactive Southern blot protocol is safe, efficient, and inexpensive. However, further technical improvement may be needed to be more cost-effective for a wide screening of all pregnant women.

AB - Fragile X syndrome (FXS) is the most common hereditary form of mental retardation. Molecular analysis of the FMR1 gene has now been applied to diagnosis and carrier detection. Because treatment is not feasible, prevention of FXS by prenatal diagnosis of carrier women early during pregnancy is important. The aim of this pilot study was to ascertain the prevalence of mutant FMR1 gene in normal population of Taiwan and to evaluate the efficacy of a betaine-based polymerase chain reaction (PCR) and nonradioactive Southern blot assays. The DNA was randomly and anonymously collected from 100 women and 100 men. The results showed 62% of the women were heterozygous for the CGG-repeat size in FMR1 gene. One of 300 X chromosomes in this study showed premutation, with 95 CGG repeats. All other chromosomes have CGG repeats ranging from 19 to 52, with eight chromosomes (3%) having more than 40 CGG repeats. The most prevalent allele has 29 repeats (48.1%), followed by 30 (24.0%) and 36 (9.5%), respectively. The results of this study reconfirmed previous reports that the prevalent FMR1 CGG repeat alleles in Chinese population are different from that of other populations. However, the prevalence of premutation gene seems to be comparable among them. The betaine-based PCR could minimize the intrinsic problem of preferential amplification and may reliably determine the different allele repeats in heterozygous females. This nonradioactive Southern blot protocol is safe, efficient, and inexpensive. However, further technical improvement may be needed to be more cost-effective for a wide screening of all pregnant women.

UR - http://www.scopus.com/inward/record.url?scp=0032754632&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0032754632&partnerID=8YFLogxK

U2 - 10.1097/00019606-199909000-00008

DO - 10.1097/00019606-199909000-00008

M3 - Article

VL - 8

SP - 152

EP - 156

JO - Diagnostic Molecular Pathology

JF - Diagnostic Molecular Pathology

SN - 1052-9551

IS - 3

ER -