Chapter 21: Sex Chromosome Haplotyping and Gender Identification

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Patrilineage

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23 Terms

1

Patrilineage

The Y chromosome is inherited from the father and is passed on to all male offspring.

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2

Pseudoautosomal Regions (PARs)

Homologous nucleotide sequences that are present on the X and Y chromosomes.

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3

PAR1

It is located on the terminal region of the short arm. It comprises 2.6 Mb. Twenty-four genes have been identified within the PAR1.

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4

PAR2

It is located at the tip of the long arm. It comprises 320 kb, with only four genes identified so far.

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5

Male-Specific Y Region

The remainder of the Y chromosome.

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6

DYF155S1

The first characterized VNTR at the human Y chromosome. It consists of an array of AT-rich repeats at 25 bp per unit repeat.

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7

X-chromosomal STR (X-STR) profiling

is a useful tool in kinship testing in forensic investigations.

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8

homologous PARs

Homologous recombination between the X and Y chromosomes is restricted to the _______.

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9

paternal X chromosome

The _________ is inherited by daughters as haplotypes.

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10

Recombination Fraction

The percentage of recombinants resulting from chromosomal crossover between two loci during meiosis among all the offspring.

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11

Amelogenesis Imperfecta

A disorder that causes abnormal formation of tooth enamel in both primary and permanent teeth.

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12

AMEL X

AMEL locus which is located on the human X chromosome.

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13

AMEL Y

AMEL locus which is located on the human Y chromosome.

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14

Sex-determining region Y (SRY) gene

Encodes a transcription factor that plays a role in the regulation of sex determination toward male development.

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15

HMG box

The SRY protein contains a DNA-binding domain known as the _____.

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16

SOX3

An SRY-related HMG box-containing gene, has been identified at Xq27.1 of the X chromosome, which shares sequence homology with SRY.

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17

TSPY Locus

It encodes the testis-specific protein Y-encoded gene that is only expressed in the testis and may play a role in spermatogenesis.

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18

DYS14

A marker utilized for the characterization of the TSPY locus.

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19

TSPY-like (TSPYL) gene

It has been identified on the short arm of the X chromosome and is designated as TSPYL2.

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20

TSPYL2

A single-copy gene per X chromosome and is 6.3 kb in length, consisting of 7 exons and 6 introns.

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21

DXYS156

A polymorphic pentanucleotide STR. It is located at the pseudoautosomal region of both X and Y chromosomes, is another candidate marker used for sex typing.

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22

DXYS156 Y

Alleles that have an additional adenine insertion in the repeat units of STR.

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23

Steroid sulfatase (STS) gene

Encodes an enzyme that catalyzes the conversion of sulfated steroid precursors to biologically active steroids such as estrogens and androgens.

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